#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
NOC2L	26155	broad.mit.edu	37	1	880525	880525	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:880525C>A	ENST00000327044.6	-	18	2104	c.2055G>T	c.(2053-2055)ggG>ggT	p.G685G		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	685	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.G685G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCCTCAGTATCCCTGAGGAAC	0.602																																						uc001abz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2053-2055)GGG>GGT		nucleolar complex associated 2 homolog							74.0	68.0	70.0					1																	880525		2193	4299	6492	SO:0001630	splice_region_variant	26155					nucleolus	protein binding	g.chr1:880525C>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2054-1G>T	1.37:g.880525C>A						NOC2L_uc001aby.3_Silent_p.G482G|NOC2L_uc009vjq.2_Silent_p.G685G	p.G685G	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	18	2114	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	685			Asp/Glu-rich (acidic).		Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.2055G>T	CCDS3.1																																																																																				PASS	0.602	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658	Silent	5	5	5	5	---	---	---	---
ACAP3	116983	broad.mit.edu	37	1	1233771	1233771	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:1233771C>A	ENST00000354700.5	-	12	1096	c.894G>T	c.(892-894)ctG>ctT	p.L298L	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Silent_p.L256L	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.L256L(1)|p.L298L(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TCTGGTAGACCAGCTGGCTGT	0.677																																						uc001aeb.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(892-894)CTG>CTT		ArfGAP with coiled-coil, ankyrin repeat and PH							51.0	58.0	55.0					1																	1233771		2201	4297	6498	SO:0001819	synonymous_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1233771C>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.894G>T	1.37:g.1233771C>A						ACAP3_uc001ady.2_Silent_p.L28L|ACAP3_uc001aea.2_Silent_p.L256L	p.L298L	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			12	968	-			298			PH.		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	c.894G>T	CCDS19.2																																																																																				PASS	0.677	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		45	56	45	56	---	---	---	---
CDK11A	728642	broad.mit.edu	37	1	1647830	1647830	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:1647830C>G	ENST00000378633.1	-	5	492	c.413G>C	c.(412-414)aGa>aCa	p.R138T	CDK11A_ENST00000378635.3_Missense_Mutation_p.R138T|CDK11A_ENST00000357760.2_Missense_Mutation_p.R138T|CDK11A_ENST00000378638.2_Missense_Mutation_p.R114T|CDK11A_ENST00000358779.5_Missense_Mutation_p.R138T|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Missense_Mutation_p.R148T|CDK11A_ENST00000356200.3_Missense_Mutation_p.R114T			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	138	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.W148S(1)|p.R138T(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TCTCTTCTGTCTTTCCCATTC	0.493																																					Pancreas(186;965 2119 30274 40311 50569)	uc001agv.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(448-450)AGA>ACA		cell division cycle 2-like 1 (PITSLRE proteins)							225.0	227.0	227.0					1																	1647830		1995	4167	6162	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1647830C>G	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.413G>C	1.37:g.1647830C>G	ENSP00000367900:p.Arg138Thr					CDK11B_uc001ags.1_5'UTR|CDK11B_uc001agt.1_5'UTR|CDK11B_uc001aha.1_Missense_Mutation_p.R116T|CDK11B_uc001agw.1_Missense_Mutation_p.R105T|CDK11B_uc001agy.1_Missense_Mutation_p.R139T|CDK11B_uc001agx.1_Missense_Mutation_p.R139T|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.R138T|CDK11A_uc009vks.2_Missense_Mutation_p.R148T|CDK11A_uc010nys.1_Missense_Mutation_p.R138T|CDK11A_uc010nyt.1_Missense_Mutation_p.R148T|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_Missense_Mutation_p.R138T|CDK11A_uc009vku.1_Missense_Mutation_p.R138T|CDK11A_uc009vkv.1_Missense_Mutation_p.R148T|CDK11A_uc001aht.1_Missense_Mutation_p.R138T|CDK11B_uc001ahu.1_Missense_Mutation_p.R138T|CDK11B_uc001ahv.1_Missense_Mutation_p.R148T|CDK11B_uc001ahw.1_Missense_Mutation_p.R148T	p.R150T	NM_033486	NP_277021	P21127	CD11B_HUMAN			9	560	-			150			Glu-rich.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.449G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.697558|3.697558	0.68386|0.68386	.|.	.|.	ENSG00000008128|ENSG00000008128	ENST00000341028|ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	.|T;T;T;T;T;T;T;T	.|0.11821	.|2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74	4.56|4.56	3.62|3.62	0.41486|0.41486	.|.	.|0.141721	.|0.44483	.|U	.|0.000460	T|T	0.24890|0.24890	0.0604|0.0604	L|L	0.32530|0.32530	0.975|0.975	0.43457|0.43457	D|D	0.995654|0.995654	.|D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.987;0.993;0.999;0.99;0.996;0.981;0.99;0.999;0.999;0.974;1.0	.|D;D;D;D;P;D;D;D;D;P;D	.|0.91635	.|0.942;0.977;0.999;0.957;0.895;0.962;0.957;0.999;0.996;0.647;0.997	T|T	0.01030|0.01030	-1.1475|-1.1475	6|10	0.59425|0.41790	D|T	0.04|0.15	.|.	12.9935|12.9935	0.58634|0.58634	0.1624:0.8376:0.0:0.0|0.1624:0.8376:0.0:0.0	.|.	.|148;138;148;138;148;138;114;140;138;106;150	.|B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.|.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	N|T	3|114;148;138;138;138;114;114;138;138	.|ENSP00000348529:R114T;ENSP00000384442:R148T;ENSP00000350403:R138T;ENSP00000351629:R138T;ENSP00000367900:R138T;ENSP00000367905:R114T;ENSP00000367902:R138T;ENSP00000423900:R138T	ENSP00000344418:K3N|ENSP00000348529:R114T	K|R	-|-	3|2	2|0	CDK11A|CDK11A	1637690|1637690	0.992000|0.992000	0.36948|0.36948	0.740000|0.740000	0.30986|0.30986	0.736000|0.736000	0.42039|0.42039	6.218000|6.218000	0.72224|0.72224	1.095000|1.095000	0.41419|0.41419	0.543000|0.543000	0.68304|0.68304	AAG|AGA		PASS	0.493	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		25	90	25	90	---	---	---	---
LRRC47	57470	broad.mit.edu	37	1	3701698	3701698	+	Missense_Mutation	SNP	C	C	A	rs147533898		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:3701698C>A	ENST00000378251.1	-	3	1174	c.1147G>T	c.(1147-1149)Gtc>Ttc	p.V383F	RN7SL574P_ENST00000581512.1_RNA|RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	383							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.V383F(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGCCCTTTGACGGCACGGAGC	0.602																																						uc001akx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1147-1149)GTC>TTC		leucine rich repeat containing 47							90.0	79.0	83.0					1																	3701698		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3701698C>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1147G>T	1.37:g.3701698C>A	ENSP00000367498:p.Val383Phe						p.V383F	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	3	1175	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	383					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1147G>T	CCDS51.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535194	0.27475	.	.	ENSG00000130764	ENST00000378251	T	0.51071	0.72	4.92	0.154	0.14901	B3/B4 tRNA-binding domain (1);	0.508381	0.21541	N	0.072887	T	0.48840	0.1522	M	0.75615	2.305	0.26799	N	0.969232	D	0.53312	0.959	P	0.48334	0.574	T	0.47560	-0.9108	10	0.87932	D	0	-31.3394	6.1871	0.20503	0.0:0.5045:0.1355:0.36	.	383	Q8N1G4	LRC47_HUMAN	F	383	ENSP00000367498:V383F	ENSP00000367498:V383F	V	-	1	0	LRRC47	3691558	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.802000	0.04545	-0.199000	0.10317	0.467000	0.42956	GTC		PASS	0.602	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		18	38	18	38	---	---	---	---
PHF13	148479	broad.mit.edu	37	1	6680350	6680350	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:6680350G>T	ENST00000377648.4	+	3	1011	c.629G>T	c.(628-630)cGa>cTa	p.R210L	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	210					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R210L(1)		endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GTGGTGTTCCGAGATGAGGAC	0.507																																						uc001aob.3																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)CGA>CTA		PHD finger protein 13							37.0	33.0	34.0					1																	6680350		2203	4300	6503	SO:0001583	missense	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680350G>T	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.629G>T	1.37:g.6680350G>T	ENSP00000366876:p.Arg210Leu						p.R210L	NM_153812	NP_722519	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	1000	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	210					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	ENST00000377648.4	37	c.629G>T	CCDS85.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606712	0.87157	.	.	ENSG00000116273	ENST00000377648	T	0.50548	0.74	5.77	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	N	0.08118	0	0.80722	D	1	P	0.51653	0.947	P	0.48227	0.571	T	0.13629	-1.0502	10	0.23891	T	0.37	-7.8699	14.0141	0.64515	0.0722:0.0:0.9278:0.0	.	210	Q86YI8	PHF13_HUMAN	L	210	ENSP00000366876:R210L	ENSP00000366876:R210L	R	+	2	0	PHF13	6602937	1.000000	0.71417	0.958000	0.39756	0.992000	0.81027	9.238000	0.95380	1.444000	0.47605	0.561000	0.74099	CGA		PASS	0.507	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		11	5	11	5	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7792569	7792569	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:7792569G>C	ENST00000303635.7	+	12	3183	c.2976G>C	c.(2974-2976)gaG>gaC	p.E992D	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E992D	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	992					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E992D(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)		GGATGGCCGAGATGACGGGGT	0.627			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.(2974-2976)GAG>GAC		calmodulin-binding transcription activator 1							66.0	72.0	70.0					1																	7792569		2203	4299	6502	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7792569G>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.2976G>C	1.37:g.7792569G>C	ENSP00000306522:p.Glu992Asp					CAMTA1_uc010nzv.1_Missense_Mutation_p.E79D|CAMTA1_uc001aok.3_Missense_Mutation_p.E35D	p.E992D	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)	12	3183	+	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)	992					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2976G>C	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704353	0.68615	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738	T;T	0.44881	0.91;0.91	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.38175	1.15	0.54753	D	0.999986	P;D;D	0.65815	0.815;0.994;0.995	P;D;D	0.72625	0.784;0.97;0.978	T	0.30822	-0.9965	10	0.15952	T	0.53	-25.3004	13.1859	0.59680	0.0826:0.0:0.9174:0.0	.	992;79;992	Q9Y6Y1-2;B4DXR3;Q9Y6Y1	.;.;CMTA1_HUMAN	D	992;992;79	ENSP00000306522:E992D;ENSP00000402561:E992D	ENSP00000306522:E992D	E	+	3	2	CAMTA1	7715156	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.687000	0.74552	2.592000	0.87571	0.557000	0.71058	GAG		PASS	0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		9	6	9	6	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12027050	12027050	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:12027050C>G	ENST00000196061.4	+	16	1684	c.1657C>G	c.(1657-1659)Ccg>Gcg	p.P553A	PLOD1_ENST00000376369.3_Missense_Mutation_p.P600A	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	553					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.P553A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGCCCTGCCCGGATGTCTA	0.607																																						uc001atm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1657-1659)CCG>GCG		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						116.0	109.0	111.0					1																	12027050		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12027050C>G	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1657C>G	1.37:g.12027050C>G	ENSP00000196061:p.Pro553Ala					PLOD1_uc010obb.1_Missense_Mutation_p.P600A	p.P553A	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	16	1748	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	553					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1657C>G	CCDS142.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014827	0.93404	.	.	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	D;D	0.84370	-1.84;-1.84	5.64	5.64	0.86602	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93808	0.8020	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.94486	0.7697	10	0.87932	D	0	.	18.6919	0.91586	0.0:1.0:0.0:0.0	.	600;553	B4DR87;Q02809	.;PLOD1_HUMAN	A	217;600;553	ENSP00000365548:P600A;ENSP00000196061:P553A	ENSP00000196061:P553A	P	+	1	0	PLOD1	11949637	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.767000	0.85331	2.655000	0.90218	0.655000	0.94253	CCG		PASS	0.607	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		16	31	16	31	---	---	---	---
TNFRSF8	943	broad.mit.edu	37	1	12169669	12169669	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:12169669C>T	ENST00000263932.2	+	5	690	c.468C>T	c.(466-468)gtC>gtT	p.V156V	TNFRSF8_ENST00000417814.2_Silent_p.V45V	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	156					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.V156V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CCCCAGGGGTCAGCCCTGCCT	0.622																																						uc001atq.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(466-468)GTC>GTT		tumor necrosis factor receptor superfamily,							46.0	49.0	48.0					1																	12169669		2203	4300	6503	SO:0001819	synonymous_variant	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12169669C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.468C>T	1.37:g.12169669C>T						TNFRSF8_uc010obc.1_Silent_p.V45V	p.V156V	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	5	690	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	156			Extracellular (Potential).		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	c.468C>T	CCDS144.1																																																																																				PASS	0.622	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			11	12	11	12	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16259408	16259408	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:16259408G>A	ENST00000375759.3	+	11	6877	c.6673G>A	c.(6673-6675)Gac>Aac	p.D2225N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2225	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.D2225N(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CATCATCAATGACATTTCTGG	0.597																																						uc001axk.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(6673-6675)GAC>AAC		spen homolog, transcriptional regulator							57.0	60.0	59.0					1																	16259408		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259408G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6673G>A	1.37:g.16259408G>A	ENSP00000364912:p.Asp2225Asn					SPEN_uc010obp.1_Missense_Mutation_p.D2184N	p.D2225N	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6877	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2225			RID.|Interaction with MSX2 (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.6673G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904518	0.72868	.	.	ENSG00000065526	ENST00000375759	T	0.12672	2.66	5.2	5.2	0.72013	.	.	.	.	.	T	0.26810	0.0656	M	0.65975	2.015	0.58432	D	0.999998	D	0.54397	0.966	P	0.49012	0.598	T	0.02070	-1.1219	9	0.56958	D	0.05	-14.3562	18.7305	0.91733	0.0:0.0:1.0:0.0	.	2225	Q96T58	MINT_HUMAN	N	2225	ENSP00000364912:D2225N	ENSP00000364912:D2225N	D	+	1	0	SPEN	16131995	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.372000	0.97165	2.421000	0.82119	0.462000	0.41574	GAC		PASS	0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		33	34	33	34	---	---	---	---
MFAP2	4237	broad.mit.edu	37	1	17302211	17302211	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:17302211G>T	ENST00000375535.3	-	7	590	c.301C>A	c.(301-303)Cag>Aag	p.Q101K	MFAP2_ENST00000375534.3_Missense_Mutation_p.Q100K|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.Q100K			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	101					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)		p.Q101K(1)		kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CACGGGTACTGTTCCTCACGG	0.627																																						uc001azw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)CAG>AAG		microfibrillar-associated protein 2 isoform a							88.0	74.0	79.0					1																	17302211		2203	4300	6503	SO:0001583	missense	4237					microfibril		g.chr1:17302211G>T	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.301C>A	1.37:g.17302211G>T	ENSP00000364685:p.Gln101Lys					MFAP2_uc001azx.2_Missense_Mutation_p.Q100K|MFAP2_uc001azy.2_Missense_Mutation_p.Q101K|MFAP2_uc010ocl.1_Missense_Mutation_p.Q100K	p.Q101K	NM_002403	NP_002394	P55001	MFAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	7	434	-		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	101					Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	c.301C>A	CCDS174.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646337	0.67358	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.04	4.04	0.47022	.	0.000000	0.64402	D	0.000001	T	0.64692	0.2621	L	0.37800	1.135	0.45464	D	0.998434	D;D	0.63880	0.991;0.993	D;P	0.74023	0.982;0.874	T	0.61865	-0.6975	9	0.30078	T	0.28	-17.6562	14.0921	0.64998	0.0:0.0:1.0:0.0	.	100;101	Q5JXY0;P55001	.;MFAP2_HUMAN	K	101;100;100	.	ENSP00000364684:Q100K	Q	-	1	0	MFAP2	17174798	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.240000	0.89813	1.991000	0.58162	0.491000	0.48974	CAG		PASS	0.627	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	NM_002403		3	4	3	4	---	---	---	---
HTR6	3362	broad.mit.edu	37	1	20005658	20005658	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:20005658C>A	ENST00000289753.1	+	3	1587	c.1120C>A	c.(1120-1122)Ctg>Atg	p.L374M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	374					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)	p.L374M(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GCCGCTGCCCCTGCCGCCGGA	0.731																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1120-1122)CTG>ATG		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						6.0	8.0	7.0					1																	20005658		2127	4186	6313	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005658C>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1120C>A	1.37:g.20005658C>A	ENSP00000289753:p.Leu374Met						p.L374M	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	3	1587	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	374			Cytoplasmic (By similarity).		Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.1120C>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369540	0.42003	.	.	ENSG00000158748	ENST00000289753	T	0.56103	0.48	5.39	3.41	0.39046	.	0.494915	0.15522	N	0.257989	T	0.42359	0.1199	N	0.14661	0.345	0.19575	N	0.999968	D	0.61080	0.989	P	0.53450	0.726	T	0.12528	-1.0544	9	.	.	.	.	6.755	0.23507	0.0:0.589:0.2487:0.1623	.	374	P50406	5HT6R_HUMAN	M	374	ENSP00000289753:L374M	.	L	+	1	2	HTR6	19878245	0.882000	0.30256	0.994000	0.49952	0.414000	0.31173	1.192000	0.32150	1.418000	0.47098	0.561000	0.74099	CTG		PASS	0.731	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		9	1	9	1	---	---	---	---
SH2D5	400745	broad.mit.edu	37	1	21051028	21051028	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:21051028G>C	ENST00000444387.2	-	6	888	c.491C>G	c.(490-492)aCa>aGa	p.T164R	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.T80R	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	164								p.T80R(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACCTCCCCTGTGGGCCCTGG	0.667																																						uc001bdt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)ACA>AGA		SH2 domain containing 5 isoform 2							12.0	16.0	15.0					1																	21051028		1892	4096	5988	SO:0001583	missense	400745							g.chr1:21051028G>C	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.491C>G	1.37:g.21051028G>C	ENSP00000406026:p.Thr164Arg					SH2D5_uc009vpy.1_Missense_Mutation_p.T164R|SH2D5_uc001bdu.1_RNA	p.T80R	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	864	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	80					B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	37	c.239C>G	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	G	3.690	-0.063759	0.07273	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.81	0.742	0.18341	.	1.460960	0.03925	N	0.284291	T	0.18045	0.0433	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.17979	0.02	T	0.16808	-1.0390	9	0.15066	T	0.55	.	4.0621	0.09843	0.3013:0.173:0.5257:0.0	.	164	Q6ZV89	SH2D5_HUMAN	R	80;164	.	ENSP00000364171:T80R	T	-	2	0	SH2D5	20923615	0.000000	0.05858	0.016000	0.15963	0.010000	0.07245	-0.216000	0.09266	-0.006000	0.14370	-0.128000	0.14901	ACA		PASS	0.667	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		10	3	10	3	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22155925	22155925	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:22155925G>A	ENST00000374695.3	-	87	12022	c.11943C>T	c.(11941-11943)tcC>tcT	p.S3981S	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3981	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S3981S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCATCGCCAGGGACACGAAGT	0.652																																						uc001bfj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(11941-11943)TCC>TCT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						50.0	50.0	50.0					1																	22155925		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22155925G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11943C>T	1.37:g.22155925G>A						HSPG2_uc001bfi.2_5'UTR|HSPG2_uc009vqd.2_Silent_p.S3982S	p.S3981S	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	87	11983	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3981			Laminin G-like 2.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.11943C>T	CCDS30625.1																																																																																				PASS	0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		26	11	26	11	---	---	---	---
HMGCL	3155	broad.mit.edu	37	1	24143179	24143179	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:24143179C>A	ENST00000374490.3	-	4	377	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C	HMGCL_ENST00000436439.2_Missense_Mutation_p.G112C|HMGCL_ENST00000374483.4_Missense_Mutation_p.G87C|HMGCL_ENST00000509389.1_5'UTR	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	112					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.G112C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GCCTCGAAGCCTTTCAAATTT	0.527																																						uc001bib.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(334-336)GGC>TGC		3-hydroxy-3-methylglutaryl CoA lyase isoform 1							168.0	163.0	165.0					1																	24143179		2203	4300	6503	SO:0001583	missense	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24143179C>A	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.334G>T	1.37:g.24143179C>A	ENSP00000363614:p.Gly112Cys					HMGCL_uc010oec.1_Missense_Mutation_p.G112C|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Missense_Mutation_p.G87C|HMGCL_uc009vqs.1_Missense_Mutation_p.G112C|HMGCL_uc001bid.1_Missense_Mutation_p.G112C	p.G112C	NM_000191	NP_000182	P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	4	378	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	112					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	37	c.334G>T	CCDS243.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457099	0.84317	.	.	ENSG00000117305	ENST00000374490;ENST00000436439;ENST00000374483;ENST00000543166	D;D;D	0.99070	-4.8;-5.39;-4.8	5.8	5.8	0.92144	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.99211	4.47	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	D	0.97328	0.9948	10	0.87932	D	0	-6.8966	19.6644	0.95887	0.0:1.0:0.0:0.0	.	112;112;87;112	B4DUP4;Q6IBC0;B1AK13;P35914	.;.;.;HMGCL_HUMAN	C	112;112;87;87	ENSP00000363614:G112C;ENSP00000389281:G112C;ENSP00000363607:G87C	ENSP00000363607:G87C	G	-	1	0	HMGCL	24015766	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.766000	0.85320	2.758000	0.94735	0.563000	0.77884	GGC		PASS	0.527	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		67	32	67	32	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26612496	26612496	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:26612496C>T	ENST00000374222.1	-	10	1056	c.592G>A	c.(592-594)Gac>Aac	p.D198N	UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000535108.1_Missense_Mutation_p.D40N|UBXN11_ENST00000357089.4_Missense_Mutation_p.D165N|UBXN11_ENST00000314675.7_Missense_Mutation_p.D78N|UBXN11_ENST00000374221.3_Missense_Mutation_p.D198N|UBXN11_ENST00000374217.2_Missense_Mutation_p.D165N|UBXN11_ENST00000436301.2_Missense_Mutation_p.D123N			Q5T124	UBX11_HUMAN	UBX domain protein 11	198						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D198N(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						AGCAGCCTGTCAAAGTCCACC	0.627											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001blw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(592-594)GAC>AAC		socius isoform 2							26.0	28.0	27.0					1																	26612496		1905	4123	6028	SO:0001583	missense	91544					cytoplasm|cytoskeleton		g.chr1:26612496C>T	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.592G>A	1.37:g.26612496C>T	ENSP00000363339:p.Asp198Asn		OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	788	UBXN11_uc001blz.1_Missense_Mutation_p.D165N|UBXN11_uc001blv.2_Missense_Mutation_p.D160N|UBXN11_uc001bly.2_Missense_Mutation_p.D78N|UBXN11_uc001blx.2_5'UTR|UBXN11_uc001bma.2_Missense_Mutation_p.D165N|UBXN11_uc001bmb.1_Missense_Mutation_p.D198N|UBXN11_uc010ofb.1_Missense_Mutation_p.D123N|UBXN11_uc010ofc.1_Missense_Mutation_p.D40N	p.D198N	NM_183008	NP_892120	Q5T124	UBX11_HUMAN			10	865	-			198					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	c.592G>A	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129849	0.94473	.	.	ENSG00000158062	ENST00000314675;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217;ENST00000535108;ENST00000436301;ENST00000374215;ENST00000452980	T;T;T;T;T;T;T;T;T	0.57273	2.03;2.06;1.97;1.97;2.06;0.64;0.54;0.57;0.41	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	L	0.49350	1.555	0.50171	D	0.999851	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.989;0.998;1.0;0.998;0.997	T	0.67138	-0.5746	10	0.44086	T	0.13	-26.4958	17.4033	0.87466	0.0:1.0:0.0:0.0	.	40;123;165;160;78;198	B7Z1T8;B7Z3N8;Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;.;.;UBX11_HUMAN	N	78;165;198;198;165;40;123;160;165	ENSP00000324721:D78N;ENSP00000349601:D165N;ENSP00000363338:D198N;ENSP00000363339:D198N;ENSP00000363334:D165N;ENSP00000446034:D40N;ENSP00000393858:D123N;ENSP00000363332:D160N;ENSP00000410357:D165N	ENSP00000324721:D78N	D	-	1	0	UBXN11	26485083	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.145000	0.71769	2.423000	0.82170	0.591000	0.81541	GAC		PASS	0.627	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		19	4	19	4	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34076847	34076847	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:34076847G>A	ENST00000373380.1	-	20	2976	c.2756C>T	c.(2755-2757)gCt>gTt	p.A919V	CSMD2_ENST00000373381.4_Missense_Mutation_p.A2046V|CSMD2_ENST00000373388.2_Missense_Mutation_p.A145V|CSMD2_ENST00000373377.1_Missense_Mutation_p.A145V			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2006	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2006V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGGATGTGAGCTCCTGGGAG	0.552																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(6016-6018)GCT>GTT		CUB and Sushi multiple domains 2							74.0	78.0	77.0					1																	34076847		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34076847G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2756C>T	1.37:g.34076847G>A	ENSP00000362478:p.Ala919Val					CSMD2_uc001bxm.1_Missense_Mutation_p.A2046V|CSMD2_uc001bxo.1_Missense_Mutation_p.A919V	p.A2006V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			41	6046	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2006			CUB 12.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6017C>T		.	.	.	.	.	.	.	.	.	.	G	17.83	3.486397	0.63962	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.37	5.37	0.77165	CUB (5);	0.120812	0.56097	D	0.000034	T	0.09379	0.0231	N	0.00885	-1.115	0.58432	D	0.999999	P;D;D	0.59357	0.904;0.96;0.985	P;P;P	0.62435	0.702;0.852;0.902	T	0.60900	-0.7171	10	0.23302	T	0.38	.	18.1017	0.89508	0.0:0.0:1.0:0.0	.	919;2006;2046	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	V	2046;919;145;145	ENSP00000362479:A2046V;ENSP00000362478:A919V;ENSP00000362475:A145V;ENSP00000362486:A145V	ENSP00000241312:A2006V	A	-	2	0	CSMD2	33849434	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.745000	0.74860	2.528000	0.85240	0.561000	0.74099	GCT		PASS	0.552	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		15	3	15	3	---	---	---	---
OSBPL9	114883	broad.mit.edu	37	1	52227552	52227552	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:52227552G>T	ENST00000428468.1	+	11	689	c.687G>T	c.(685-687)ttG>ttT	p.L229F	OSBPL9_ENST00000462759.1_Missense_Mutation_p.L51F|OSBPL9_ENST00000486942.1_Missense_Mutation_p.L51F|OSBPL9_ENST00000453295.1_Missense_Mutation_p.L212F|OSBPL9_ENST00000531828.1_Missense_Mutation_p.L64F|OSBPL9_ENST00000530544.1_Missense_Mutation_p.L148F|OSBPL9_ENST00000361556.5_Missense_Mutation_p.L119F|OSBPL9_ENST00000435686.2_Missense_Mutation_p.L64F|OSBPL9_ENST00000371710.3_Missense_Mutation_p.L247F|OSBPL9_ENST00000337809.4_Missense_Mutation_p.L234F|OSBPL9_ENST00000447887.1_Missense_Mutation_p.L239F|OSBPL9_ENST00000371714.1_Missense_Mutation_p.L216F			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	229					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.L239F(2)|p.L119F(1)|p.L229F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CTGTTCAGTTGTGTAAGTCAG	0.418																																						uc001cst.2																			4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(685-687)TTG>TTT		oxysterol binding protein-like 9 isoform e							163.0	160.0	161.0					1																	52227552		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52227552G>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.687G>T	1.37:g.52227552G>T	ENSP00000407168:p.Leu229Phe					OSBPL9_uc001css.2_Missense_Mutation_p.L234F|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.L230F|OSBPL9_uc001csu.2_Missense_Mutation_p.L239F|OSBPL9_uc001csv.2_Missense_Mutation_p.L64F|OSBPL9_uc001csw.2_Missense_Mutation_p.L216F|OSBPL9_uc001csy.2_Missense_Mutation_p.L51F|OSBPL9_uc001csz.2_Missense_Mutation_p.L51F|OSBPL9_uc001cta.2_Missense_Mutation_p.L119F|OSBPL9_uc001ctb.2_Missense_Mutation_p.L14F	p.L229F	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN			11	706	+			229					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.687G>T	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279258	0.40294	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000532975;ENST00000527631;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.69	5.69	0.88448	.	0.305828	0.32802	N	0.005638	T	0.15262	0.0368	L	0.36672	1.1	0.39090	D	0.961082	B;P;P;B;B	0.38440	0.177;0.631;0.549;0.215;0.306	B;B;B;B;B	0.36030	0.049;0.216;0.1;0.073;0.107	T	0.02491	-1.1151	10	0.48119	T	0.1	-7.8659	13.6038	0.62035	0.0:0.0:0.7297:0.2703	.	212;119;245;229;234	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	F	216;247;234;239;64;229;212;148;51;64;64;119;51;51	ENSP00000360779:L216F;ENSP00000360775:L247F;ENSP00000337265:L234F;ENSP00000412733:L239F;ENSP00000402646:L64F;ENSP00000407168:L229F;ENSP00000413263:L212F;ENSP00000433675:L148F;ENSP00000432801:L51F;ENSP00000435129:L64F;ENSP00000433083:L64F;ENSP00000354970:L119F;ENSP00000433279:L51F;ENSP00000431980:L51F	ENSP00000337265:L234F	L	+	3	2	OSBPL9	52000140	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.342000	0.33919	2.840000	0.97914	0.655000	0.94253	TTG		PASS	0.418	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			61	18	61	18	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70226034	70226034	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:70226034G>A	ENST00000035383.5	+	1	177	c.147G>A	c.(145-147)gaG>gaA	p.E49E	LRRC7_ENST00000370958.1_Silent_p.E87E|LRRC7_ENST00000310961.5_Silent_p.E54E|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	49						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.E87E(1)|p.E49E(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						GAACATTAGAGGAGCTTTATC	0.358																																						uc001dep.2																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(145-147)GAG>GAA		leucine rich repeat containing 7							83.0	83.0	83.0					1																	70226034		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70226034G>A		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.147G>A	1.37:g.70226034G>A						LRRC7_uc001deo.1_Silent_p.E87E|LRRC7_uc009wbg.2_5'UTR	p.E49E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			1	177	+			49			LRR 2.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.147G>A	CCDS645.1																																																																																				PASS	0.358	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		11	11	11	11	---	---	---	---
PTGER3	5733	broad.mit.edu	37	1	71512735	71512735	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:71512735C>A	ENST00000306666.5	-	1	736	c.526G>T	c.(526-528)Gct>Tct	p.A176S	ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000370932.2_Missense_Mutation_p.A176S|PTGER3_ENST00000356595.4_Missense_Mutation_p.A176S|PTGER3_ENST00000351052.5_Missense_Mutation_p.A176S|PTGER3_ENST00000460330.1_Missense_Mutation_p.A176S|PTGER3_ENST00000354608.5_Missense_Mutation_p.A176S|PTGER3_ENST00000414819.1_Missense_Mutation_p.A176S|PTGER3_ENST00000370924.4_Missense_Mutation_p.A176S|PTGER3_ENST00000370931.3_Missense_Mutation_p.A176S	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	176					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.A176S(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGCAGCACAGCGCGGGTGGCA	0.706																																						uc001dfg.1																			5	Substitution - Missense(5)		lung(5)	pancreas(1)|lung(1)|skin(1)	3						c.(526-528)GCT>TCT		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						17.0	18.0	18.0					1																	71512735		2198	4287	6485	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512735C>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.526G>T	1.37:g.71512735C>A	ENSP00000302313:p.Ala176Ser					PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.A176S|PTGER3_uc001dfl.1_Missense_Mutation_p.A176S|PTGER3_uc009wbm.1_Missense_Mutation_p.A176S|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.A176S|PTGER3_uc009wbn.1_Missense_Mutation_p.A176S|PTGER3_uc009wbo.2_Missense_Mutation_p.A176S|PTGER3_uc001dfo.2_Missense_Mutation_p.A176S|PTGER3_uc001dfp.1_Missense_Mutation_p.A176S|PTGER3_uc001dfq.2_Missense_Mutation_p.A176S|uc001dfr.2_RNA	p.A176S	NM_198714	NP_942007	P43115	PE2R3_HUMAN			1	757	-			176			Helical; Name=4; (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.526G>T	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264665	0.23136	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.86	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.583708	0.19605	N	0.110289	T	0.33789	0.0875	L	0.46885	1.475	0.09310	N	0.999999	B;B;B;B;B;B;B;B	0.31599	0.33;0.055;0.108;0.33;0.33;0.045;0.106;0.13	B;B;B;B;B;B;B;B	0.27796	0.058;0.036;0.05;0.083;0.083;0.021;0.021;0.058	T	0.16958	-1.0385	10	0.36615	T	0.2	-9.2009	2.1961	0.03911	0.4055:0.3283:0.1188:0.1474	.	176;176;176;176;176;176;176;176	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	S	176	ENSP00000359969:A176S;ENSP00000359970:A176S;ENSP00000280208:A176S;ENSP00000418073:A176S;ENSP00000346624:A176S;ENSP00000349003:A176S;ENSP00000401423:A176S;ENSP00000302313:A176S;ENSP00000359962:A176S	ENSP00000302313:A176S	A	-	1	0	PTGER3	71285323	0.578000	0.26717	0.334000	0.25495	0.957000	0.61999	0.431000	0.21444	0.180000	0.19960	0.462000	0.41574	GCT		PASS	0.706	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		14	5	14	5	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038632	75038632	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:75038632G>T	ENST00000326665.5	-	14	2980	c.2762C>A	c.(2761-2763)gCc>gAc	p.A921D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		921	Glu-rich.							p.A921D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTCTCAGGGCTGCTACTTC	0.537																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2761-2763)GCC>GAC		hypothetical protein LOC127254							173.0	171.0	172.0					1																	75038632		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038632G>T																												ENST00000326665.5:c.2762C>A	1.37:g.75038632G>T	ENSP00000322609:p.Ala921Asp						p.A921D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2981	-			921			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2762C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.012106	0.35511	.	.	ENSG00000178965	ENST00000326665	T	0.12879	2.64	4.76	-3.38	0.04883	.	.	.	.	.	T	0.01800	0.0057	L	0.29908	0.895	0.09310	N	1	B	0.19073	0.033	B	0.15870	0.014	T	0.47235	-0.9133	9	0.12766	T	0.61	0.0658	2.9133	0.05744	0.3189:0.1085:0.4518:0.1208	.	921	Q5RHP9	CA173_HUMAN	D	921	ENSP00000322609:A921D	ENSP00000322609:A921D	A	-	2	0	C1orf173	74811220	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.173000	0.03108	-0.444000	0.07170	0.563000	0.77884	GCC		PASS	0.537	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			79	34	79	34	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85484903	85484903	+	Missense_Mutation	SNP	C	C	A	rs370749569		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:85484903C>A	ENST00000370589.2	-	13	1617	c.1565G>T	c.(1564-1566)cGt>cTt	p.R522L	MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.R466L|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	522					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R522L(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TATAAATGTACGAAGTTCAGT	0.348																																						uc001dkp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1564-1566)CGT>CTT		mucolipin 3							99.0	97.0	98.0					1																	85484903		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85484903C>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1565G>T	1.37:g.85484903C>A	ENSP00000359621:p.Arg522Leu					MCOLN3_uc001dko.2_Missense_Mutation_p.R141L|MCOLN3_uc001dkq.2_Missense_Mutation_p.R466L	p.R522L	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	13	1658	-			522					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1565G>T	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171377	0.57584	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	D;D	0.84070	-1.8;-1.66	6.16	1.85	0.25348	.	0.352689	0.35040	N	0.003487	T	0.57154	0.2034	L	0.39898	1.24	0.42822	D	0.99399	B;B	0.32350	0.366;0.251	B;B	0.27262	0.078;0.039	T	0.55939	-0.8061	10	0.45353	T	0.12	-19.3567	6.4595	0.21948	0.0:0.409:0.0:0.591	.	466;522	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	L	522;522;466;466	ENSP00000359621:R522L;ENSP00000342698:R466L	ENSP00000304843:R522L	R	-	2	0	MCOLN3	85257491	0.994000	0.37717	0.425000	0.26659	0.946000	0.59487	2.601000	0.46249	0.506000	0.28125	0.650000	0.86243	CGT		PASS	0.348	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		29	6	29	6	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85486820	85486820	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:85486820C>T	ENST00000370589.2	-	12	1512	c.1460G>A	c.(1459-1461)aGc>aAc	p.S487N	MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S431N|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	487					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S487N(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TATAAAGAGGCTGATGAATGA	0.333																																						uc001dkp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1459-1461)AGC>AAC		mucolipin 3							72.0	78.0	76.0					1																	85486820		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85486820C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1460G>A	1.37:g.85486820C>T	ENSP00000359621:p.Ser487Asn					MCOLN3_uc001dko.2_Missense_Mutation_p.S106N|MCOLN3_uc001dkq.2_Missense_Mutation_p.S431N	p.S487N	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	12	1553	-			487			Helical; (Potential).		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1460G>A	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486542	0.84854	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.69926	-0.44;-0.44	5.86	5.86	0.93980	Polycystin cation channel, PKD1/PKD2 (1);	0.182841	0.64402	D	0.000012	T	0.81206	0.4774	M	0.87269	2.87	0.48975	D	0.999738	D;P	0.76494	0.999;0.921	D;P	0.71184	0.972;0.763	T	0.77411	-0.2598	10	0.26408	T	0.33	-16.6147	20.2019	0.98263	0.0:1.0:0.0:0.0	.	431;487	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	N	487;487;431;431	ENSP00000359621:S487N;ENSP00000342698:S431N	ENSP00000304843:S487N	S	-	2	0	MCOLN3	85259408	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.122000	0.71608	2.776000	0.95493	0.655000	0.94253	AGC		PASS	0.333	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		24	7	24	7	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86581015	86581015	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:86581015C>A	ENST00000370571.2	-	4	1904	c.1538G>T	c.(1537-1539)gGt>gTt	p.G513V	COL24A1_ENST00000436319.1_Missense_Mutation_p.G513V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	513	Collagen-like 1.				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.G513V(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)		TACCCGTGGACCTCTCTTCCC	0.428																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1537-1539)GGT>GTT		collagen, type XXIV, alpha 1 precursor							97.0	94.0	95.0					1																	86581015		1890	4109	5999	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86581015C>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.1538G>T	1.37:g.86581015C>A	ENSP00000359603:p.Gly513Val					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.G513V	p.G513V	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	4	1580	-			513			Collagen-like 1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1538G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831242	0.50845	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99637	-6.29;-6.29	5.65	5.65	0.86999	.	0.000000	0.40554	N	0.001067	D	0.99806	0.9916	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97238	0.9889	10	0.87932	D	0	.	17.2278	0.86975	0.0:1.0:0.0:0.0	.	513;513	F8WDM8;Q17RW2	.;COOA1_HUMAN	V	513	ENSP00000359603:G513V;ENSP00000392531:G513V	ENSP00000359603:G513V	G	-	2	0	COL24A1	86353603	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.711000	0.68400	2.811000	0.96726	0.655000	0.94253	GGT		PASS	0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		11	4	11	4	---	---	---	---
GBP5	115362	broad.mit.edu	37	1	89729589	89729589	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:89729589G>T	ENST00000370459.3	-	8	1319	c.1192C>A	c.(1192-1194)Ctg>Atg	p.L398M	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Missense_Mutation_p.L398M			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	398						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.L398M(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GATGCTTCCAGGTTCCGTTTA	0.398																																						uc001dnc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1192-1194)CTG>ATG		guanylate-binding protein 5							156.0	161.0	159.0					1																	89729589		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729589G>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1192C>A	1.37:g.89729589G>T	ENSP00000359488:p.Leu398Met					GBP5_uc001dnd.2_Missense_Mutation_p.L398M|GBP5_uc001dne.1_Missense_Mutation_p.L398M	p.L398M	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1729	-			398					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1192C>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.570969	0.28003	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.54479	0.57;0.57;0.57	5.02	-10.0	0.00425	Guanylate-binding protein, C-terminal (3);	1.697240	0.03530	N	0.222231	T	0.07773	0.0195	N	0.04335	-0.225	0.09310	N	1	B	0.24258	0.1	B	0.25405	0.06	T	0.08493	-1.0719	10	0.33940	T	0.23	1.2303	4.3159	0.10993	0.1202:0.4835:0.1452:0.2511	.	398	Q96PP8	GBP5_HUMAN	M	398	ENSP00000340396:L398M;ENSP00000359488:L398M;ENSP00000403010:L398M	ENSP00000340396:L398M	L	-	1	2	GBP5	89502177	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.433000	0.06948	-2.543000	0.00484	-1.751000	0.00678	CTG		PASS	0.398	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		59	25	59	25	---	---	---	---
GLMN	11146	broad.mit.edu	37	1	92737095	92737095	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:92737095C>A	ENST00000370360.3	-	8	931	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	GLMN_ENST00000534881.1_Missense_Mutation_p.D284Y	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	284					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)	p.D284Y(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GCCATTGAGTCTGCTAACTGT	0.353									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(850-852)GAC>TAC		glomulin							183.0	176.0	178.0					1																	92737095		2203	4300	6503	SO:0001583	missense	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92737095C>A	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.850G>T	1.37:g.92737095C>A	ENSP00000359385:p.Asp284Tyr					GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.D284Y	p.D284Y	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	8	965	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	284			Potential.		Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.850G>T	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193336	0.58017	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.46819	0.86;0.86	5.08	5.08	0.68730	.	0.154610	0.64402	D	0.000019	T	0.51584	0.1683	L	0.51422	1.61	0.42075	D	0.991222	P;P	0.49783	0.902;0.928	P;P	0.57152	0.765;0.814	T	0.56631	-0.7947	10	0.87932	D	0	-8.0606	17.463	0.87624	0.0:1.0:0.0:0.0	.	284;284	B4DJ85;Q92990	.;GLMN_HUMAN	Y	284	ENSP00000359385:D284Y;ENSP00000440156:D284Y	ENSP00000359385:D284Y	D	-	1	0	GLMN	92509683	1.000000	0.71417	0.995000	0.50966	0.609000	0.37215	3.342000	0.52159	2.347000	0.79759	0.591000	0.81541	GAC		PASS	0.353	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		47	23	47	23	---	---	---	---
FRRS1	391059	broad.mit.edu	37	1	100203641	100203641	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:100203641C>A	ENST00000414213.1	-	7	1361		c.e7+1		FRRS1_ENST00000287474.5_Splice_Site			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1							integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GAGGTACCAACCATCCACTGA	0.488																																						uc001dsh.1																			1	Unknown(1)		lung(1)	skin(1)	1						c.e7+1		stromal cell derived factor receptor 2 homolog							104.0	109.0	107.0					1																	100203641		2203	4300	6503	SO:0001630	splice_region_variant	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100203641C>A	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.759+1G>T	1.37:g.100203641C>A							p.M253_splice	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	7	1361	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)						A6NLN7	Splice_Site	SNP	ENST00000414213.1	37	c.759_splice		.	.	.	.	.	.	.	.	.	.	C	16.02	3.004543	0.54254	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8293	0.96628	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRRS1	99976229	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	5.924000	0.70054	2.749000	0.94314	0.655000	0.94253	.		PASS	0.488	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660	Intron	36	14	36	14	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109792869	109792869	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:109792869G>C	ENST00000271332.3	+	1	229	c.168G>C	c.(166-168)tgG>tgC	p.W56C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	56					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.W56C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCATGGGCTGGCTCTGTCCAT	0.677																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(166-168)TGG>TGC		cadherin EGF LAG seven-pass G-type receptor 2							33.0	35.0	35.0					1																	109792869		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792869G>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.168G>C	1.37:g.109792869G>C	ENSP00000271332:p.Trp56Cys						p.W56C	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	229	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	56			Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.168G>C	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	13.20	2.165688	0.38217	.	.	ENSG00000143126	ENST00000271332	T	0.68624	-0.34	5.16	4.25	0.50352	.	.	.	.	.	T	0.28134	0.0694	N	0.08118	0	0.37959	D	0.93289	B	0.06786	0.001	B	0.01281	0.0	T	0.09465	-1.0673	9	0.38643	T	0.18	.	11.5891	0.50935	0.0:0.1348:0.7254:0.1399	.	56	Q9HCU4	CELR2_HUMAN	C	56	ENSP00000271332:W56C	ENSP00000271332:W56C	W	+	3	0	CELSR2	109594392	0.054000	0.20591	1.000000	0.80357	0.496000	0.33645	0.714000	0.25808	1.198000	0.43158	-0.294000	0.09567	TGG		PASS	0.677	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		23	6	23	6	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118548175	118548175	+	Silent	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:118548175A>T	ENST00000336338.5	-	32	4703	c.4638T>A	c.(4636-4638)gcT>gcA	p.A1546A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1546						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.A1546A(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGCAGTACACAGCTGAACAAT	0.383																																						uc001ehk.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4636-4638)GCT>GCA		sperm associated antigen 17							82.0	81.0	82.0					1																	118548175		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548175A>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4638T>A	1.37:g.118548175A>T							p.A1546A	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4706	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1546					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.4638T>A	CCDS899.1																																																																																				PASS	0.383	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		12	10	12	10	---	---	---	---
LIX1L	128077	broad.mit.edu	37	1	145497486	145497486	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:145497486C>A	ENST00000369308.3	+	4	765	c.691C>A	c.(691-693)Cag>Aag	p.Q231K	RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	231								p.Q231K(1)		large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTGGAGTTCCAGGTACTTTC	0.453																																						uc001enr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(691-693)CAG>AAG		Lix1 homolog (mouse) like							76.0	62.0	67.0					1																	145497486		2203	4300	6503	SO:0001583	missense	128077							g.chr1:145497486C>A	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.691C>A	1.37:g.145497486C>A	ENSP00000358314:p.Gln231Lys					NBPF10_uc001emp.3_Intron|LIX1L_uc009wiu.1_5'Flank	p.Q231K	NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN			4	765	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		231					Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	c.691C>A	CCDS915.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004252	0.93287	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.78049	2.395	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.78643	-0.2124	9	0.87932	D	0	-32.9019	16.0431	0.80698	0.0:1.0:0.0:0.0	.	231	Q8IVB5	LIX1L_HUMAN	K	231;178	.	ENSP00000358314:Q231K	Q	+	1	0	LIX1L	144208843	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.189000	0.77747	2.640000	0.89533	0.563000	0.77884	CAG		PASS	0.453	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		9	11	9	11	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146766105	146766105	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:146766105C>T	ENST00000369258.4	+	22	2541	c.2521C>T	c.(2521-2523)Cca>Tca	p.P841S	CHD1L_ENST00000361293.5_Missense_Mutation_p.P560S|CHD1L_ENST00000431239.1_Missense_Mutation_p.P747S|CHD1L_ENST00000369259.3_Missense_Mutation_p.P637S|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	841	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.P841T(1)|p.P841S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGTTCATCTTCCACGTATTGG	0.388																																						uc001epm.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(2521-2523)CCA>TCA		chromodomain helicase DNA binding protein							227.0	203.0	211.0					1																	146766105		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146766105C>T	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2521C>T	1.37:g.146766105C>T	ENSP00000358262:p.Pro841Ser					uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.P728S|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.P747S|CHD1L_uc010ozp.1_Missense_Mutation_p.P560S|CHD1L_uc001epo.3_Missense_Mutation_p.P637S|CHD1L_uc009wji.2_Missense_Mutation_p.P560S	p.P841S	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			22	2584	+	all_hematologic(923;0.0487)		841			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.2521C>T	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674066	0.88445	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.7	5.7	0.88788	Appr-1-p processing (1);	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.88943	0.3381	10	0.87932	D	0	.	15.3248	0.74150	0.0:1.0:0.0:0.0	.	747;637;841	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	S	747;637;841;560	ENSP00000389031:P747S;ENSP00000358263:P637S;ENSP00000358262:P841S;ENSP00000355100:P560S	ENSP00000355100:P560S	P	+	1	0	CHD1L	145232729	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.695000	0.74593	2.696000	0.92011	0.655000	0.94253	CCA		PASS	0.388	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		21	115	21	115	---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151263255	151263255	+	IGR	SNP	C	C	T	rs376641944		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:151263255C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_3'UTR			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.P1095L(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCACGACACCGCCAGCCAAG	0.617																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(3283-3285)CCG>CTG		zinc finger protein 687		C	LEU/PRO	0,4406		0,0,2203	52.0	58.0	56.0		3284	5.0	0.4	1		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF687	NM_020832.1	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1095/1238	151263255	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151263255C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151263255C>T						ZNF687_uc009wmo.2_Missense_Mutation_p.P1095L|ZNF687_uc009wmp.2_3'UTR	p.P1095L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	3382	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1095					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.3284C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.968538|2.968538	0.53614|0.53614	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048|ENST00000436614	T;T|.	0.00922|.	5.54;5.54|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.33895|.	U|.	0.004459|.	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.50570|.	0.644|.	T|T	0.59408|0.59408	-0.7460|-0.7460	10|6	0.31617|0.87932	T|D	0.26|0	.|.	10.8043|10.8043	0.46507|0.46507	0.1887:0.8113:0.0:0.0|0.1887:0.8113:0.0:0.0	.|.	1095|.	Q8N1G0|.	ZN687_HUMAN|.	L|C	1095|70	ENSP00000336620:P1095L;ENSP00000319829:P1095L|.	ENSP00000319829:P1095L|ENSP00000416942:R70C	P|R	+|+	2|1	0|0	ZNF687|ZNF687	149529879|149529879	0.297000|0.297000	0.24408|0.24408	0.410000|0.410000	0.26471|0.26471	0.961000|0.961000	0.63080|0.63080	1.405000|1.405000	0.34635|0.34635	2.587000|2.587000	0.87381|0.87381	0.563000|0.563000	0.77884|0.77884	CCG|CGC		PASS	0.617	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		36	61	36	61	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152081509	152081509	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:152081509T>C	ENST00000368804.1	-	2	4183	c.4184A>G	c.(4183-4185)gAg>gGg	p.E1395G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1395	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E1395G(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGTTCCTCCTTAAGGAA	0.597																																						uc001ezp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4183-4185)GAG>GGG		trichohyalin							57.0	59.0	58.0					1																	152081509		1843	4093	5936	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081509T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4184A>G	1.37:g.152081509T>C	ENSP00000357794:p.Glu1395Gly					TCHH_uc009wne.1_Missense_Mutation_p.E1395G	p.E1395G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4184	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1395			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4184A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	t	8.834	0.940707	0.18281	.	.	ENSG00000159450	ENST00000368804	T	0.11063	2.81	2.22	1.01	0.19927	.	.	.	.	.	T	0.09024	0.0223	M	0.65498	2.005	0.28654	N	0.906486	D	0.56287	0.975	P	0.55011	0.766	T	0.10543	-1.0625	9	0.46703	T	0.11	.	5.543	0.17049	0.0:0.1558:0.0:0.8442	.	1395	Q07283	TRHY_HUMAN	G	1395	ENSP00000357794:E1395G	ENSP00000357794:E1395G	E	-	2	0	TCHH	150348133	0.009000	0.17119	0.043000	0.18650	0.009000	0.06853	0.798000	0.27014	0.142000	0.18901	0.246000	0.17985	GAG		PASS	0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		26	155	26	155	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152084022	152084022	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:152084022C>A	ENST00000368804.1	-	2	1670	c.1671G>T	c.(1669-1671)agG>agT	p.R557S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	557	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R557S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTCGAGCCTCTTCTCCT	0.657																																						uc001ezp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1669-1671)AGG>AGT		trichohyalin							67.0	74.0	72.0					1																	152084022		2022	4180	6202	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084022C>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1671G>T	1.37:g.152084022C>A	ENSP00000357794:p.Arg557Ser					TCHH_uc009wne.1_Missense_Mutation_p.R557S	p.R557S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1671	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		557			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1671G>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	7.154	0.584394	0.13749	.	.	ENSG00000159450	ENST00000368804	T	0.06142	3.34	0.982	-0.137	0.13469	.	.	.	.	.	T	0.00580	0.0019	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.32903	-0.9889	9	0.10377	T	0.69	.	1.8704	0.03207	0.3222:0.4485:0.0:0.2293	.	557	Q07283	TRHY_HUMAN	S	557	ENSP00000357794:R557S	ENSP00000357794:R557S	R	-	3	2	TCHH	150350646	0.000000	0.05858	0.003000	0.11579	0.353000	0.29299	-0.944000	0.03913	-0.028000	0.13850	0.388000	0.25769	AGG		PASS	0.657	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		56	89	56	89	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152275728	152275728	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:152275728C>A	ENST00000368799.1	-	3	11669	c.11634G>T	c.(11632-11634)agG>agT	p.R3878S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3878	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.R3878S(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)			ACTCAGATCGCCTCTCAGAGT	0.592									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11632-11634)AGG>AGT		filaggrin							119.0	124.0	122.0					1																	152275728		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.chr1:152275728C>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.11634G>T	1.37:g.152275728C>A	ENSP00000357789:p.Arg3878Ser						p.R3878S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11670	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3878			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11634G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323717	0.24080	.	.	ENSG00000143631	ENST00000368799	T	0.02446	4.29	2.34	-3.05	0.05396	.	.	.	.	.	T	0.00637	0.0021	L	0.57536	1.79	0.09310	N	1	B	0.24258	0.1	B	0.18263	0.021	T	0.50092	-0.8868	9	0.09338	T	0.73	.	0.1083	0.00054	0.2245:0.2168:0.2269:0.3318	.	3878	P20930	FILA_HUMAN	S	3878	ENSP00000357789:R3878S	ENSP00000357789:R3878S	R	-	3	2	FLG	150542352	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.720000	0.00384	-0.637000	0.05516	-0.270000	0.10280	AGG		PASS	0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		62	130	62	130	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325907	152325907	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:152325907G>C	ENST00000388718.5	-	3	4427	c.4355C>G	c.(4354-4356)tCt>tGt	p.S1452C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1452					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1452C(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGTTGAGATCCGGCTTG	0.502																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4354-4356)TCT>TGT		filaggrin family member 2							392.0	350.0	364.0					1																	152325907		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325907G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4355C>G	1.37:g.152325907G>C	ENSP00000373370:p.Ser1452Cys					uc001ezv.2_Intron	p.S1452C	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4428	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1452					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4355C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165888	0.21538	.	.	ENSG00000143520	ENST00000388718	T	0.52754	0.65	3.63	1.65	0.23941	.	.	.	.	.	T	0.43919	0.1269	M	0.76170	2.325	0.09310	N	1	D	0.76494	0.999	P	0.60012	0.867	T	0.23940	-1.0174	9	0.66056	D	0.02	-0.4494	4.7727	0.13164	0.1212:0.0:0.6658:0.213	.	1452	Q5D862	FILA2_HUMAN	C	1452	ENSP00000373370:S1452C	ENSP00000373370:S1452C	S	-	2	0	FLG2	150592531	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.395000	0.20850	0.305000	0.22832	0.297000	0.19635	TCT		PASS	0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		70	348	70	348	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329581	152329581	+	Silent	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:152329581A>T	ENST00000388718.5	-	3	753	c.681T>A	c.(679-681)tcT>tcA	p.S227S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	227	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S227S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTTGATCCAGATCCAGATT	0.438																																						uc001ezw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(679-681)TCT>TCA		filaggrin family member 2							211.0	216.0	215.0					1																	152329581		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152329581A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.681T>A	1.37:g.152329581A>T						uc001ezv.2_Intron	p.S227S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	754	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		227			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.681T>A	CCDS30861.1																																																																																				PASS	0.438	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		89	156	89	156	---	---	---	---
LCE1C	353133	broad.mit.edu	37	1	152777758	152777758	+	Missense_Mutation	SNP	C	C	T	rs534849272	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:152777758C>T	ENST00000607093.1	-	1	196	c.197G>A	c.(196-198)gGa>gAa	p.G66E	LCE1C_ENST00000368768.1_Missense_Mutation_p.G66E			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	66	Gly-rich.				keratinization (GO:0031424)			p.G66E(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGCAGCATCCCCCAGAGCT	0.672																																						uc001fap.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)GGA>GAA		late cornified envelope 1C							41.0	47.0	45.0					1																	152777758		2203	4300	6503	SO:0001583	missense	353133				keratinization			g.chr1:152777758C>T		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.197G>A	1.37:g.152777758C>T	ENSP00000475270:p.Gly66Glu						p.G66E	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	248	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		66			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.197G>A	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	7.826	0.718777	0.15372	.	.	ENSG00000197084	ENST00000368768	T	0.03951	3.75	3.32	2.39	0.29439	.	0.000000	0.34411	N	0.003999	T	0.05456	0.0144	M	0.80616	2.505	0.25174	N	0.990259	P	0.46952	0.887	P	0.50934	0.654	T	0.10730	-1.0617	10	0.87932	D	0	.	7.188	0.25811	0.0:0.8637:0.0:0.1363	.	66	Q5T751	LCE1C_HUMAN	E	66	ENSP00000357757:G66E	ENSP00000357757:G66E	G	-	2	0	LCE1C	151044382	0.057000	0.20700	0.604000	0.28916	0.749000	0.42624	0.746000	0.26275	0.713000	0.32060	0.596000	0.82720	GGA		PASS	0.672	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		42	66	42	66	---	---	---	---
S100A8	6279	broad.mit.edu	37	1	153362927	153362927	+	Missense_Mutation	SNP	C	C	G	rs201853284	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:153362927C>G	ENST00000368733.3	-	2	254	c.85G>C	c.(85-87)Gtc>Ctc	p.V29L	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.V29L	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	29	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)	p.V29L(1)		breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCTGTAGACGGCATGGAAA	0.542																																						uc001fbs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GTC>CTC		S100 calcium-binding protein A8							176.0	176.0	176.0					1																	153362927		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362927C>G	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.85G>C	1.37:g.153362927C>G	ENSP00000357722:p.Val29Leu						p.V29L	NM_002964	NP_002955	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	140	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		29			1; low affinity.|EF-hand 1.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.85G>C	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	0.057	-1.233493	0.01505	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.01484	4.84;4.84	4.17	-4.4	0.03600	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.521716	0.20918	N	0.083340	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31779	-0.9931	9	0.02654	T	1	.	8.9485	0.35773	0.0:0.4371:0.1764:0.3864	.	29	P05109	S10A8_HUMAN	L	29	ENSP00000357722:V29L;ENSP00000357721:V29L	ENSP00000357721:V29L	V	-	1	0	S100A8	151629551	0.079000	0.21365	0.000000	0.03702	0.002000	0.02628	-1.128000	0.03247	-0.870000	0.04047	-0.247000	0.11927	GTC		PASS	0.542	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		80	149	80	149	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154076576	154076576	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:154076576G>A	ENST00000368559.3	-	13	1802	c.1731C>T	c.(1729-1731)acC>acT	p.T577T	MIR5698_ENST00000577643.1_RNA|NUP210L_ENST00000271854.3_Silent_p.T577T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	577					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.T577T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGCTTCTTTGGTCTCTTTAT	0.378																																						uc001fdw.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(1729-1731)ACC>ACT		nucleoporin 210kDa-like isoform 1							154.0	142.0	146.0					1																	154076576		1864	4105	5969	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154076576G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1731C>T	1.37:g.154076576G>A						NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Silent_p.T577T	p.T577T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		13	1803	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		577					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.1731C>T	CCDS41399.1																																																																																				PASS	0.378	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		25	141	25	141	---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155264347	155264347	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:155264347G>T	ENST00000342741.4	-	6	929	c.891C>A	c.(889-891)gtC>gtA	p.V297V	PKLR_ENST00000392414.3_Silent_p.V266V	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	297					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.V297V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GAGCAGCCCTGACGGCAGCCA	0.602																																						uc001fkb.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)	5						c.(889-891)GTC>GTA		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						94.0	82.0	86.0					1																	155264347		2203	4300	6503	SO:0001819	synonymous_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264347G>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.891C>A	1.37:g.155264347G>T						RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.V266V	p.V297V	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	930	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		297					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.891C>A	CCDS1109.1																																																																																				PASS	0.602	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		33	28	33	28	---	---	---	---
SMG5	23381	broad.mit.edu	37	1	156236169	156236169	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:156236169C>G	ENST00000361813.5	-	12	1402	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	SMG5_ENST00000489907.2_5'UTR|SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	420					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.E420Q(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GACTCTGGTTCATCTGCGGAA	0.567																																						uc001foc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1258-1260)GAA>CAA		SMG5 homolog nonsense mediated mRNA decay							38.0	40.0	40.0					1																	156236169		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156236169C>G	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1258G>C	1.37:g.156236169C>G	ENSP00000355261:p.Glu420Gln					SMG5_uc009wrv.2_5'UTR	p.E420Q	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			12	1407	-	Hepatocellular(266;0.158)		420					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.1258G>C	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202761	0.38905	.	.	ENSG00000198952	ENST00000361813	T	0.18338	2.22	5.52	4.61	0.57282	.	0.225697	0.45126	D	0.000386	T	0.07234	0.0183	N	0.14661	0.345	0.80722	D	1	B	0.30937	0.301	B	0.41440	0.357	T	0.29305	-1.0016	10	0.38643	T	0.18	-12.5278	13.1037	0.59235	0.0:0.9219:0.0:0.0781	.	420	Q9UPR3	SMG5_HUMAN	Q	420	ENSP00000355261:E420Q	ENSP00000355261:E420Q	E	-	1	0	SMG5	154502793	1.000000	0.71417	0.314000	0.25224	0.851000	0.48451	4.889000	0.63171	1.331000	0.45412	0.563000	0.77884	GAA		PASS	0.567	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		18	40	18	40	---	---	---	---
TMEM79	84283	broad.mit.edu	37	1	156256105	156256105	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:156256105G>A	ENST00000405535.2	+	3	983	c.812G>A	c.(811-813)gGg>gAg	p.G271E	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.G271E|TMEM79_ENST00000357501.2_Nonsense_Mutation_p.W32*	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	271					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.G271E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CGGCCCTTTGGGGAGCCACGG	0.577																																						uc010phi.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(811-813)GGG>GAG		transmembrane protein 79							105.0	103.0	104.0					1																	156256105		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156256105G>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.812G>A	1.37:g.156256105G>A	ENSP00000384748:p.Gly271Glu					TMEM79_uc001fod.2_Missense_Mutation_p.G112E|TMEM79_uc009wrw.2_Missense_Mutation_p.G271E	p.G271E	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			3	1008	+	Hepatocellular(266;0.158)		271					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.812G>A	CCDS1138.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.383041|5.383041	0.95967|0.95967	.|.	.|.	ENSG00000163472|ENSG00000163472	ENST00000295694;ENST00000405535|ENST00000357501;ENST00000456810	T;T|.	0.44881|.	0.91;0.91|.	5.93|5.93	0.478|0.478	0.16789|0.16789	.|.	0.639785|.	0.17656|.	N|.	0.166517|.	T|.	0.03783|.	0.0107|.	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999971|0.999971	B|.	0.26258|.	0.145|.	B|.	0.29176|.	0.099|.	T|.	0.45071|.	-0.9286|.	10|.	0.42905|0.02654	T|T	0.14|1	-7.6688|-7.6688	7.3474|7.3474	0.26670|0.26670	0.149:0.3975:0.4535:0.0|0.149:0.3975:0.4535:0.0	.|.	271|.	Q9BSE2|.	TMM79_HUMAN|.	E|X	271|32	ENSP00000295694:G271E;ENSP00000384748:G271E|.	ENSP00000295694:G271E|ENSP00000350100:W32X	G|W	+|+	2|3	0|0	TMEM79|TMEM79	154522729|154522729	0.243000|0.243000	0.23878|0.23878	0.081000|0.081000	0.20488|0.20488	0.992000|0.992000	0.81027|0.81027	0.649000|0.649000	0.24843|0.24843	0.100000|0.100000	0.17581|0.17581	0.561000|0.561000	0.74099|0.74099	GGG|TGG		PASS	0.577	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		27	116	27	116	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156627501	156627501	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:156627501C>G	ENST00000329117.5	+	11	2580	c.2244C>G	c.(2242-2244)aaC>aaG	p.N748K	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	748	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.N748K(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)					TCGGACTCAACGACAGGACCA	0.647											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fpp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2242-2244)AAC>AAG		brevican isoform 1							95.0	76.0	82.0					1																	156627501		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156627501C>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.2244C>G	1.37:g.156627501C>G	ENSP00000331210:p.Asn748Lys		OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1779		p.N748K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			11	2580	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		748			C-type lectin.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2244C>G	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.144964	0.57044	.	.	ENSG00000132692	ENST00000329117	T	0.18174	2.23	5.1	-3.93	0.04143	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000003	T	0.24353	0.0590	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28618	-1.0038	10	0.72032	D	0.01	-16.359	12.1452	0.54020	0.0:0.3284:0.0:0.6716	.	748	Q96GW7	PGCB_HUMAN	K	748	ENSP00000331210:N748K	ENSP00000331210:N748K	N	+	3	2	BCAN	154894125	0.000000	0.05858	0.985000	0.45067	0.354000	0.29330	-2.284000	0.01154	-0.555000	0.06142	-0.367000	0.07326	AAC		PASS	0.647	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		4	19	4	19	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642660	156642660	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:156642660G>A	ENST00000368223.3	-	4	1452	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	440	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.V440V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCCAGGCAGGACGCTGGCAG	0.672																																						uc001fpq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(1318-1320)GTC>GTT		nestin							39.0	41.0	40.0					1																	156642660		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642660G>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1320C>T	1.37:g.156642660G>A							p.V440V	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1453	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		440			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.1320C>T	CCDS1151.1																																																																																				PASS	0.672	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		14	63	14	63	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156834197	156834197	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:156834197G>A	ENST00000524377.1	+	2	305	c.264G>A	c.(262-264)agG>agA	p.R88R	NTRK1_ENST00000368196.3_Silent_p.R88R|NTRK1_ENST00000358660.3_Silent_p.R88R|NTRK1_ENST00000392302.2_Silent_p.R58R	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	88					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R58R(1)|p.R88R(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GTGATCTGAGGGGCCTGGGGG	0.622			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(262-264)AGG>AGA		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						71.0	69.0	70.0					1																	156834197		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156834197G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.264G>A	1.37:g.156834197G>A		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.R58R|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.R88R|NTRK1_uc009wsk.1_Silent_p.R88R	p.R88R	NM_002529	NP_002520	P04629	NTRK1_HUMAN			2	320	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		88			Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.264G>A	CCDS1161.1																																																																																				PASS	0.622	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		20	31	20	31	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157767980	157767980	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:157767980G>C	ENST00000368176.3	-	8	1152	c.1085C>G	c.(1084-1086)cCa>cGa	p.P362R	FCRL1_ENST00000491942.1_Missense_Mutation_p.P362R|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.P323R	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	362						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P323R(2)|p.P362R(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGCTGCCCTGGGGTAGGTGA	0.498																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			4	Substitution - Missense(4)		lung(4)	skin(4)|ovary(3)	7						c.(1084-1086)CCA>CGA		Fc receptor-like 1 isoform 1 precursor							102.0	98.0	99.0					1																	157767980		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157767980G>C	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1085C>G	1.37:g.157767980G>C	ENSP00000357158:p.Pro362Arg					FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.P362R|FCRL1_uc001fri.2_Missense_Mutation_p.P323R|FCRL1_uc001frj.2_RNA	p.P362R	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		8	1198	-	all_hematologic(112;0.0378)		362			Cytoplasmic (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.1085C>G	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	8.877	0.950673	0.18431	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.41065	1.01;1.12;1.13	4.79	3.87	0.44632	.	0.604741	0.12482	U	0.465021	T	0.14657	0.0354	L	0.34521	1.04	0.09310	N	1	B;B;B	0.27498	0.18;0.036;0.113	B;B;B	0.29176	0.099;0.036;0.046	T	0.18808	-1.0325	10	0.19590	T	0.45	.	11.1662	0.48545	0.0:0.1861:0.8139:0.0	.	323;362;362	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	R	323;362;362	ENSP00000351039:P323R;ENSP00000357158:P362R;ENSP00000418130:P362R	ENSP00000351039:P323R	P	-	2	0	FCRL1	156034604	0.003000	0.15002	0.002000	0.10522	0.019000	0.09904	1.134000	0.31442	1.359000	0.45940	0.591000	0.81541	CCA		PASS	0.498	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		9	24	9	24	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158613164	158613164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:158613164C>A	ENST00000368147.4	-	31	4570	c.4390G>T	c.(4390-4392)Gaa>Taa	p.E1464*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1464					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E1464*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCATAGTGTTCATCAGCAATG	0.443																																						uc001fst.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4390-4392)GAA>TAA		spectrin, alpha, erythrocytic 1							142.0	138.0	139.0					1																	158613164		1941	4148	6089	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158613164C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4390G>T	1.37:g.158613164C>A	ENSP00000357129:p.Glu1464*						p.E1464*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			31	4589	-	all_hematologic(112;0.0378)		1464			Spectrin 14.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.4390G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	46	12.390036	0.99663	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.22	5.22	0.72569	.	0.242036	0.21255	N	0.077574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	17.5423	0.87851	0.0:1.0:0.0:0.0	.	.	.	.	X	1464	.	ENSP00000357129:E1464X	E	-	1	0	SPTA1	156879788	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.099000	0.76981	2.725000	0.93324	0.655000	0.94253	GAA		PASS	0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		26	29	26	29	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	159021696	159021696	+	Silent	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:159021696C>G	ENST00000295809.7	+	10	2148	c.1893C>G	c.(1891-1893)gcC>gcG	p.A631A	IFI16_ENST00000340979.6_Silent_p.A519A|IFI16_ENST00000430894.2_Silent_p.A579A|IFI16_ENST00000368132.3_Silent_p.A575A|IFI16_ENST00000368131.4_Silent_p.A575A|IFI16_ENST00000359709.3_Silent_p.A575A|IFI16_ENST00000448393.2_Silent_p.A519A			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	631	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.A575A(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGATCATTGCCATAGCAAATT	0.423																																						uc001ftg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1723-1725)GCC>GCG		interferon, gamma-inducible protein 16							101.0	100.0	100.0					1																	159021696		2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159021696C>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1893C>G	1.37:g.159021696C>G						IFI16_uc010pis.1_Silent_p.A575A|IFI16_uc001fth.2_Silent_p.A118A|IFI16_uc010pit.1_Silent_p.A174A	p.A575A	NM_005531	NP_005522	Q16666	IF16_HUMAN			9	2015	+	all_hematologic(112;0.0429)		631			HIN-200 2.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.1725C>G		.	.	.	.	.	.	.	.	.	.	C	3.075	-0.190318	0.06299	.	.	ENSG00000163565	ENST00000448393	.	.	.	4.85	1.67	0.24075	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23619	-1.0183	4	.	.	.	.	6.6176	0.22786	0.3451:0.4634:0.1915:0.0	.	.	.	.	R	340	.	.	P	+	2	0	IFI16	157288320	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.258000	0.08733	0.584000	0.29591	-0.243000	0.11985	CCA		PASS	0.423	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		16	91	16	91	---	---	---	---
CADM3	57863	broad.mit.edu	37	1	159170624	159170624	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:159170624C>T	ENST00000368125.4	+	9	1266	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|DARC_ENST00000537147.1_5'Flank|CADM3_ENST00000368124.4_Missense_Mutation_p.S404F	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	370					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.S404F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCAAAAGGCTCCGACGATGCT	0.572																																						uc001ftl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1108-1110)TCC>TTC		cell adhesion molecule 3 isoform 2							94.0	87.0	89.0					1																	159170624		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159170624C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1109C>T	1.37:g.159170624C>T	ENSP00000357107:p.Ser370Phe					CADM3_uc001ftk.2_Missense_Mutation_p.S404F|uc001ftm.1_RNA	p.S370F	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			9	1251	+	all_hematologic(112;0.0429)		370			Cytoplasmic (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.1109C>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857638	0.71834	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.55930	0.49;0.49	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000003	T	0.59932	0.2230	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.969;0.996	T	0.64385	-0.6420	10	0.62326	D	0.03	.	13.2211	0.59887	0.0:1.0:0.0:0.0	.	370;404	Q8N126;Q8N126-2	CADM3_HUMAN;.	F	404;370	ENSP00000357106:S404F;ENSP00000357107:S370F	ENSP00000357106:S404F	S	+	2	0	CADM3	157437248	0.999000	0.42202	0.985000	0.45067	0.815000	0.46073	7.093000	0.76937	1.965000	0.57142	0.591000	0.81541	TCC		PASS	0.572	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		27	46	27	46	---	---	---	---
CADM3	57863	broad.mit.edu	37	1	159170626	159170626	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:159170626G>C	ENST00000368125.4	+	9	1268	c.1111G>C	c.(1111-1113)Gac>Cac	p.D371H	CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|DARC_ENST00000537147.1_5'Flank|CADM3_ENST00000368124.4_Missense_Mutation_p.D405H	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	371					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.D405N(1)|p.D405H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AAAAGGCTCCGACGATGCTCC	0.572																																						uc001ftl.2																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(2)	2						c.(1111-1113)GAC>CAC		cell adhesion molecule 3 isoform 2							94.0	87.0	90.0					1																	159170626		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159170626G>C	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1111G>C	1.37:g.159170626G>C	ENSP00000357107:p.Asp371His					CADM3_uc001ftk.2_Missense_Mutation_p.D405H|uc001ftm.1_RNA	p.D371H	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			9	1253	+	all_hematologic(112;0.0429)		371			Cytoplasmic (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.1111G>C	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807466	0.70797	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.57907	0.37;0.38	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000001	T	0.67011	0.2848	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.81914	0.995;0.806	T	0.73379	-0.4001	10	0.72032	D	0.01	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	371;405	Q8N126;Q8N126-2	CADM3_HUMAN;.	H	405;371	ENSP00000357106:D405H;ENSP00000357107:D371H	ENSP00000357106:D405H	D	+	1	0	CADM3	157437250	1.000000	0.71417	0.976000	0.42696	0.857000	0.48899	7.173000	0.77612	1.965000	0.57142	0.591000	0.81541	GAC		PASS	0.572	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		27	48	27	48	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159900956	159900956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:159900956G>A	ENST00000368094.1	-	13	1806	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Nonsense_Mutation_p.Q521*	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	537	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q521*(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGAATCTCTGCAGATAACCA	0.542																																						uc001fur.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(1609-1611)CAG>TAG		immunoglobulin superfamily, member 9 isoform a							101.0	83.0	89.0					1																	159900956		2203	4299	6502	SO:0001587	stop_gained	57549					cell junction|integral to membrane|synapse		g.chr1:159900956G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1609C>T	1.37:g.159900956G>A	ENSP00000357073:p.Gln537*					IGSF9_uc001fuq.2_Nonsense_Mutation_p.Q521*|IGSF9_uc001fup.2_5'UTR	p.Q537*	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		13	1807	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	537			Fibronectin type-III 1.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000368094.1	37	c.1609C>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	39	7.666477	0.98422	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	.	.	.	4.07	4.07	0.47477	.	0.000000	0.40818	N	0.001016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.9201	14.124	0.65208	0.0:0.0:1.0:0.0	.	.	.	.	X	521;537	.	.	Q	-	1	0	IGSF9	158167580	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.044000	0.93805	2.271000	0.75665	0.462000	0.41574	CAG		PASS	0.542	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		3	14	3	14	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160094994	160094994	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:160094994C>A	ENST00000361216.3	+	7	788	c.699C>A	c.(697-699)aaC>aaA	p.N233K	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N233K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	233					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.N233K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCCATGAGAACCCCCTGGAGA	0.537																																						uc001fvc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(697-699)AAC>AAA		Na+/K+ -ATPase alpha 2 subunit proprotein							48.0	46.0	47.0					1																	160094994		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160094994C>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.699C>A	1.37:g.160094994C>A	ENSP00000354490:p.Asn233Lys					ATP1A2_uc001fvb.2_Missense_Mutation_p.N233K|ATP1A2_uc010piz.1_Missense_Mutation_p.N78K|ATP1A2_uc001fvd.2_5'Flank	p.N233K	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		7	831	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		233			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.699C>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062721	0.76187	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.88124	-2.34;-2.34	5.19	0.568	0.17333	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	M	0.75150	2.29	0.58432	D	0.999993	P;D	0.56035	0.955;0.974	P;P	0.60068	0.716;0.868	D	0.88020	0.2768	10	0.87932	D	0	.	11.2199	0.48848	0.0:0.6827:0.0:0.3173	.	78;233	B4DHD7;P50993	.;AT1A2_HUMAN	K	78;233;233	ENSP00000354490:N233K;ENSP00000376066:N233K	ENSP00000354490:N233K	N	+	3	2	ATP1A2	158361618	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.032000	0.30178	0.198000	0.20407	-0.333000	0.08304	AAC		PASS	0.537	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		3	49	3	49	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160124847	160124847	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:160124847C>A	ENST00000368081.4	+	3	691	c.220C>A	c.(220-222)Caa>Aaa	p.Q74K		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	74					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.Q74K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCATAGCCACCAAAGGGCAAA	0.512																																						uc001fve.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(220-222)CAA>AAA		Na+/K+ -ATPase alpha 4 subunit isoform 1							135.0	139.0	138.0					1																	160124847		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160124847C>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.220C>A	1.37:g.160124847C>A	ENSP00000357060:p.Gln74Lys					ATP1A4_uc001fvf.3_RNA	p.Q74K	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	699	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		74			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.220C>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362479	0.24684	.	.	ENSG00000132681	ENST00000368081	T	0.78707	-1.2	4.76	-4.51	0.03483	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.783220	0.02752	N	0.117599	T	0.47875	0.1469	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.53725	-0.8398	10	0.72032	D	0.01	.	12.0633	0.53574	0.1598:0.6677:0.1724:0.0	.	74	Q13733	AT1A4_HUMAN	K	74	ENSP00000357060:Q74K	ENSP00000357060:Q74K	Q	+	1	0	ATP1A4	158391471	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.167000	0.03126	-0.685000	0.05177	-0.165000	0.13383	CAA		PASS	0.512	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		20	123	20	123	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160281809	160281809	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:160281809C>A	ENST00000241704.7	-	11	1155		c.e11-1		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.?(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCATCATGGCCTGGGGGACAG	0.443																																						uc009wti.2																			2	Unknown(2)		lung(2)	ovary(1)|skin(1)	2						c.e11-1		coatomer protein complex, subunit alpha isoform							85.0	71.0	76.0					1																	160281809		2203	4300	6503	SO:0001630	splice_region_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160281809C>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.926-1G>T	1.37:g.160281809C>A						COPA_uc001fvv.3_Splice_Site_p.G309_splice|COPA_uc009wtj.1_Splice_Site_p.G255_splice	p.G309_splice	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1320	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)							Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	37	c.926_splice	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615905	0.87359	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7957	0.85601	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COPA	158548433	1.000000	0.71417	0.992000	0.48379	0.955000	0.61496	7.171000	0.77595	2.274000	0.75844	0.655000	0.94253	.		PASS	0.443	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Intron	7	22	7	22	---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495433	161495433	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:161495433G>A	ENST00000309758.4	+	1	1398	c.985G>A	c.(985-987)Gac>Aac	p.D329N	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	329					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.D329N(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCAAGCTGGACAAGGCCCA	0.607																																						uc001gap.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(985-987)GAC>AAC		heat shock 70kDa protein 6 (HSP70B')							34.0	37.0	36.0					1																	161495433		2203	4300	6503	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495433G>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.985G>A	1.37:g.161495433G>A	ENSP00000310219:p.Asp329Asn					HSPA6_uc001gaq.2_Missense_Mutation_p.D329N	p.D329N	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	1645	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		329					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.985G>A	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.164074	0.38217	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.10005	2.92	3.23	1.29	0.21616	.	0.586689	0.13702	N	0.368745	T	0.04724	0.0128	M	0.69248	2.105	0.33463	D	0.585264	B	0.06786	0.001	B	0.12156	0.007	T	0.08249	-1.0731	10	0.87932	D	0	.	6.0135	0.19589	0.1168:0.1934:0.6898:0.0	.	329	P17066	HSP76_HUMAN	N	329;305	ENSP00000310219:D329N	ENSP00000310219:D329N	D	+	1	0	HSPA6	159762057	1.000000	0.71417	0.410000	0.26471	0.963000	0.63663	3.103000	0.50298	0.093000	0.17368	0.543000	0.68304	GAC		PASS	0.607	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		17	19	17	19	---	---	---	---
UAP1	6675	broad.mit.edu	37	1	162536109	162536109	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:162536109A>G	ENST00000367925.1	+	1	283	c.251A>G	c.(250-252)cAa>cGa	p.Q84R	UAP1_ENST00000271469.3_Missense_Mutation_p.Q84R|UAP1_ENST00000367926.4_Missense_Mutation_p.Q84R|UAP1_ENST00000367924.1_Missense_Mutation_p.Q84R			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	84					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.Q84R(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACAAGGGATCAAGATCAGCTC	0.433																																						uc001gce.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|kidney(1)	5						c.(250-252)CAA>CGA		UDP-N-acetylglucosamine pyrophosphorylase 1							85.0	75.0	78.0					1																	162536109		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162536109A>G	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.251A>G	1.37:g.162536109A>G	ENSP00000356902:p.Gln84Arg						p.Q84R	NM_003115	NP_003106	Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	580	+	all_hematologic(112;0.115)		84					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.251A>G		.	.	.	.	.	.	.	.	.	.	A	10.18	1.280026	0.23392	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.24	4.13	0.48395	.	0.217691	0.42964	D	0.000622	T	0.01976	0.0062	N	0.02539	-0.55	0.25519	N	0.987386	B	0.02656	0.0	B	0.01281	0.0	T	0.44174	-0.9345	9	0.20046	T	0.44	-3.5517	8.5425	0.33402	0.9093:0.0:0.0907:0.0	.	84	Q16222-2	.	R	84	ENSP00000395648:Q84R;ENSP00000356903:Q84R;ENSP00000271469:Q84R;ENSP00000356902:Q84R;ENSP00000356901:Q84R	ENSP00000271469:Q84R	Q	+	2	0	UAP1	160802733	0.911000	0.30947	0.969000	0.41365	0.986000	0.74619	1.719000	0.38011	1.958000	0.56883	0.533000	0.62120	CAA		PASS	0.433	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		14	27	14	27	---	---	---	---
DDR2	4921	broad.mit.edu	37	1	162724627	162724627	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:162724627G>T	ENST00000367922.3	+	6	837	c.399G>T	c.(397-399)cgG>cgT	p.R133R	DDR2_ENST00000367921.3_Silent_p.R133R	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	133	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R133R(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCTCTTGGCGGAACCGTCATG	0.522																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(397-399)CGG>CGT		discoidin domain receptor family, member 2							87.0	70.0	76.0					1																	162724627		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162724627G>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.399G>T	1.37:g.162724627G>T						DDR2_uc001gcg.2_Silent_p.R133R	p.R133R	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		6	864	+	all_hematologic(112;0.115)		133			Extracellular (Potential).|F5/8 type C.		Q7Z730	Silent	SNP	ENST00000367922.3	37	c.399G>T	CCDS1241.1																																																																																				PASS	0.522	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		18	28	18	28	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167095205	167095205	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:167095205G>A	ENST00000361200.2	+	6	1003	c.837G>A	c.(835-837)atG>atA	p.M279I	DUSP27_ENST00000443333.1_Missense_Mutation_p.M279I|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.M279I			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	279					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.M279I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAGTTGATGGAGGAGAGAG	0.617																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(835-837)ATG>ATA		dual specificity phosphatase 27							61.0	63.0	63.0					1																	167095205		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095205G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.837G>A	1.37:g.167095205G>A	ENSP00000354483:p.Met279Ile						p.M279I	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	837	+			279					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.837G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270120	0.80469	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.59772	0.24;0.24;0.24	5.55	5.55	0.83447	Dual specificity phosphatase, subgroup, catalytic domain (1);	0.241087	0.46145	D	0.000319	T	0.49440	0.1557	M	0.65975	2.015	0.58432	D	0.999998	P	0.39831	0.69	B	0.36666	0.23	T	0.60100	-0.7329	10	0.66056	D	0.02	-38.3635	19.509	0.95133	0.0:0.0:1.0:0.0	.	279	Q5VZP5	DUS27_HUMAN	I	279	ENSP00000354483:M279I;ENSP00000271385:M279I;ENSP00000404874:M279I	ENSP00000271385:M279I	M	+	3	0	DUSP27	165361829	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.325000	0.65869	2.593000	0.87608	0.643000	0.83706	ATG		PASS	0.617	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		23	19	23	19	---	---	---	---
FMO3	2328	broad.mit.edu	37	1	171086551	171086551	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:171086551T>C	ENST00000367755.4	+	9	1679	c.1568T>C	c.(1567-1569)cTg>cCg	p.L523P	FMO3_ENST00000392085.2_Missense_Mutation_p.L523P|FMO3_ENST00000542847.1_Missense_Mutation_p.L503P|FMO3_ENST00000538429.1_Missense_Mutation_p.L460P	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	523					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.L523P(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ATTCCTATTCTGTTAATCGCT	0.428																																						uc001ghi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1567-1569)CTG>CCG		flavin containing monooxygenase 3							162.0	148.0	153.0					1																	171086551		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086551T>C	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1568T>C	1.37:g.171086551T>C	ENSP00000356729:p.Leu523Pro					FMO3_uc001ghh.2_Missense_Mutation_p.L523P|FMO3_uc010pmb.1_Missense_Mutation_p.L503P|FMO3_uc010pmc.1_Missense_Mutation_p.L460P	p.L523P	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			9	1679	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		523					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1568T>C	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633558	0.47049	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.55	4.55	0.56014	.	0.554174	0.16982	N	0.191647	T	0.68485	0.3006	M	0.87547	2.89	0.26502	N	0.974756	D;D;D	0.76494	0.995;0.999;0.999	P;D;D	0.73708	0.894;0.967;0.981	T	0.63980	-0.6514	10	0.72032	D	0.01	-0.0319	9.4466	0.38701	0.0:0.0859:0.0:0.9141	.	460;503;523	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	P	523;523;503;460	ENSP00000356729:L523P;ENSP00000375935:L523P;ENSP00000444073:L503P;ENSP00000439500:L460P	ENSP00000356729:L523P	L	+	2	0	FMO3	169353175	0.321000	0.24625	0.006000	0.13384	0.154000	0.21943	3.634000	0.54302	1.900000	0.55004	0.533000	0.62120	CTG		PASS	0.428	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		29	44	29	44	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171755175	171755175	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:171755175G>T	ENST00000361735.3	+	3	1336	c.1070G>T	c.(1069-1071)aGa>aTa	p.R357I	METTL13_ENST00000458517.1_Missense_Mutation_p.R356I|METTL13_ENST00000367737.5_Missense_Mutation_p.R201I|METTL13_ENST00000362019.3_Missense_Mutation_p.R271I	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	357							methyltransferase activity (GO:0008168)	p.R357I(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CTGTCGGCTAGAGTCATGGAG	0.572																																						uc001ghz.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1069-1071)AGA>ATA		CGI-01 protein isoform 1							51.0	44.0	46.0					1																	171755175		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171755175G>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1070G>T	1.37:g.171755175G>T	ENSP00000354920:p.Arg357Ile					METTL13_uc001gia.2_Missense_Mutation_p.R271I|METTL13_uc001gib.2_Missense_Mutation_p.R201I|METTL13_uc010pml.1_Missense_Mutation_p.R356I	p.R357I	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			3	1417	+			357					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1070G>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667170	0.47677	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.36	4.38	0.52667	.	0.436137	0.27591	N	0.018689	T	0.01627	0.0052	N	0.05078	-0.115	0.47511	D	0.999445	B;B;B	0.31485	0.001;0.325;0.078	B;B;B	0.29862	0.004;0.108;0.035	T	0.47100	-0.9143	10	0.22706	T	0.39	-20.0269	5.4013	0.16297	0.2377:0.0:0.7623:0.0	.	356;201;357	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	I	356;271;201;357	ENSP00000401955:R356I;ENSP00000355393:R271I;ENSP00000356711:R201I;ENSP00000354920:R357I	ENSP00000354920:R357I	R	+	2	0	METTL13	170021798	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.899000	0.56288	2.793000	0.96121	0.561000	0.74099	AGA		PASS	0.572	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		5	18	5	18	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172376937	172376937	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:172376937C>A	ENST00000355305.5	+	21	2723	c.2566C>A	c.(2566-2568)Cgt>Agt	p.R856S	DNM3_ENST00000367731.1_Missense_Mutation_p.R846S|DNM3_ENST00000358155.4_Missense_Mutation_p.R850S|PIGC_ENST00000484368.1_Intron			Q9UQ16	DYN3_HUMAN	dynamin 3	856					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R850S(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCACCAACTCGTCCCACTAT	0.418																																						uc001gie.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2548-2550)CGT>AGT		dynamin 3 isoform a							211.0	207.0	208.0					1																	172376937		1856	4105	5961	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172376937C>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2566C>A	1.37:g.172376937C>A	ENSP00000347457:p.Arg856Ser					DNM3_uc001gif.2_Missense_Mutation_p.R846S|DNM3_uc001gih.1_Intron|PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron	p.R850S	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			21	2724	+			856					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.2548C>A		.	.	.	.	.	.	.	.	.	.	C	19.63	3.864139	0.71949	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731	T;T;T	0.51574	0.7;0.7;0.7	5.83	5.83	0.93111	.	0.321128	0.30820	N	0.008806	T	0.61590	0.2359	M	0.67397	2.05	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.70487	0.969;0.969	T	0.63611	-0.6598	10	0.87932	D	0	.	16.8531	0.85999	0.0:1.0:0.0:0.0	.	846;850	Q9UQ16-2;Q9UQ16-3	.;.	S	860;850;856;846	ENSP00000350876:R850S;ENSP00000347457:R856S;ENSP00000356705:R846S	ENSP00000347457:R856S	R	+	1	0	DNM3	170643560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.845000	0.62853	2.770000	0.95276	0.655000	0.94253	CGT		PASS	0.418	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		48	54	48	54	---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417612	174417612	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:174417612C>G	ENST00000367685.2	+	1	401	c.363C>G	c.(361-363)atC>atG	p.I121M	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	121					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.I121M(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GATATATCATCTCAGTTCTAA	0.438																																					Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(361-363)ATC>ATG		G protein-coupled receptor 52							221.0	220.0	220.0					1																	174417612		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417612C>G	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.363C>G	1.37:g.174417612C>G	ENSP00000356658:p.Ile121Met					RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	p.I121M	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			1	401	+			121			Helical; Name=3; (Potential).		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.363C>G	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549160	0.45383	.	.	ENSG00000203737	ENST00000367685	T	0.20463	2.07	5.74	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.22003	0.0530	N	0.14661	0.345	0.29153	N	0.878286	D	0.62365	0.991	P	0.62298	0.9	T	0.06144	-1.0843	10	0.59425	D	0.04	-17.1142	7.9705	0.30124	0.0:0.6272:0.0:0.3728	.	121	Q9Y2T5	GPR52_HUMAN	M	121	ENSP00000356658:I121M	ENSP00000356658:I121M	I	+	3	3	GPR52	172684235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.495000	0.35627	0.138000	0.18790	0.650000	0.86243	ATC		PASS	0.438	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		8	248	8	248	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175362977	175362977	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:175362977T>A	ENST00000367674.2	-	6	2003	c.1295A>T	c.(1294-1296)gAg>gTg	p.E432V	TNR_ENST00000263525.2_Missense_Mutation_p.E432V			Q92752	TENR_HUMAN	tenascin R	432	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E432V(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCACTGCACCTCCACGGTGGT	0.483																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1294-1296)GAG>GTG		tenascin R precursor							208.0	203.0	205.0					1																	175362977		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175362977T>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1295A>T	1.37:g.175362977T>A	ENSP00000356646:p.Glu432Val					TNR_uc009wwu.1_Missense_Mutation_p.E432V|TNR_uc010pmz.1_3'UTR	p.E432V	NM_003285	NP_003276	Q92752	TENR_HUMAN			4	1376	-	Renal(580;0.146)		432			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1295A>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564300	0.86335	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56103	0.48;0.48	4.75	4.75	0.60458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69300	-0.5181	10	0.44086	T	0.13	.	14.2182	0.65807	0.0:0.0:0.0:1.0	.	432	Q92752	TENR_HUMAN	V	432	ENSP00000356646:E432V;ENSP00000263525:E432V	ENSP00000263525:E432V	E	-	2	0	TNR	173629600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.544000	0.82117	1.899000	0.54978	0.523000	0.50628	GAG		PASS	0.483	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		11	157	11	157	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177906595	177906595	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:177906595C>A	ENST00000308284.6	-	19	2346	c.2257G>T	c.(2257-2259)Ggg>Tgg	p.G753W	SEC16B_ENST00000495165.1_5'Flank|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	753					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.G754W(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GAGCGGTACCCAGGGGCTTCA	0.572																																						uc001gli.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2257-2259)GGG>TGG		leucine zipper transcription regulator 2							16.0	18.0	18.0					1																	177906595		1921	4144	6065	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177906595C>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2257G>T	1.37:g.177906595C>A	ENSP00000308339:p.Gly753Trp					SEC16B_uc001glk.1_Missense_Mutation_p.G430W|SEC16B_uc009wwy.1_Missense_Mutation_p.G308W|SEC16B_uc001glh.1_Missense_Mutation_p.G412W|SEC16B_uc009wwz.1_Missense_Mutation_p.G412W|SEC16B_uc001glj.1_Missense_Mutation_p.G754W	p.G753W	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			19	2347	-			753					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.2257G>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409275	0.42715	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.17054	2.3	5.11	2.14	0.27477	.	0.725841	0.13135	N	0.411122	T	0.24928	0.0605	L	0.54323	1.7	0.09310	N	1	D;P;D;D	0.63880	0.958;0.833;0.988;0.993	P;B;P;P	0.55923	0.679;0.293;0.715;0.787	T	0.07829	-1.0752	10	0.66056	D	0.02	-8.4321	4.6102	0.12399	0.0:0.624:0.1826:0.1934	.	308;754;753;450	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	W	753;437;468	ENSP00000308339:G753W	ENSP00000239472:G468W	G	-	1	0	AL359075.1	176173218	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.301000	0.19174	1.391000	0.46566	-0.142000	0.14014	GGG		PASS	0.572	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		13	8	13	8	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185939523	185939523	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:185939523T>C	ENST00000271588.4	+	15	2498	c.2269T>C	c.(2269-2271)Ttg>Ctg	p.L757L	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.L757L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	757	Ig-like C2-type 4.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L757L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTGGGACTTTTGAAGATTCA	0.418																																						uc001grq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(2269-2271)TTG>CTG		hemicentin 1 precursor							152.0	162.0	159.0					1																	185939523		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185939523T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2269T>C	1.37:g.185939523T>C						HMCN1_uc001grr.1_Silent_p.L98L	p.L757L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			15	2498	+			757			Ig-like C2-type 4.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.2269T>C	CCDS30956.1																																																																																				PASS	0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		118	121	118	121	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185987391	185987391	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:185987391G>T	ENST00000271588.4	+	34	5606	c.5377G>T	c.(5377-5379)Gct>Tct	p.A1793S	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1793S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1793	Ig-like C2-type 15.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A1793S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGGTTATTGCTCAGGCTCA	0.423																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(5377-5379)GCT>TCT		hemicentin 1 precursor							154.0	152.0	152.0					1																	185987391		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185987391G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5377G>T	1.37:g.185987391G>T	ENSP00000271588:p.Ala1793Ser						p.A1793S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			34	5606	+			1793			Ig-like C2-type 15.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.5377G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	6.397	0.441444	0.12164	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.15;-0.15	5.89	1.49	0.22878	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.159736	0.56097	D	0.000022	T	0.39989	0.1099	N	0.01188	-0.97	0.37884	D	0.930478	D	0.76494	0.999	D	0.83275	0.996	T	0.55082	-0.8196	10	0.05436	T	0.98	.	4.0035	0.09590	0.2708:0.0:0.404:0.3252	.	1793	Q96RW7	HMCN1_HUMAN	S	1793	ENSP00000271588:A1793S;ENSP00000356462:A1793S	ENSP00000271588:A1793S	A	+	1	0	HMCN1	184254014	0.994000	0.37717	1.000000	0.80357	0.900000	0.52787	0.812000	0.27211	0.836000	0.34901	0.563000	0.77884	GCT		PASS	0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		27	83	27	83	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186088426	186088426	+	Silent	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:186088426T>G	ENST00000271588.4	+	78	12181	c.11952T>G	c.(11950-11952)gtT>gtG	p.V3984V	HMCN1_ENST00000367492.2_Silent_p.V3984V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3984					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.V3984V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCTTCATGTTCATGGTATGG	0.443																																						uc001grq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(11950-11952)GTT>GTG		hemicentin 1 precursor							107.0	98.0	101.0					1																	186088426		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088426T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11952T>G	1.37:g.186088426T>G							p.V3984V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			78	12181	+			3984					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.11952T>G	CCDS30956.1																																																																																				PASS	0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	111	18	111	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186122917	186122917	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:186122917G>T	ENST00000271588.4	+	97	15283	c.15054G>T	c.(15052-15054)ggG>ggT	p.G5018G	HMCN1_ENST00000367492.2_Silent_p.G5018G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5018	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G5018G(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGTCCTGGGCAGCTGTACG	0.453																																						uc001grq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(15052-15054)GGG>GGT		hemicentin 1 precursor							113.0	104.0	107.0					1																	186122917		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186122917G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15054G>T	1.37:g.186122917G>T						HMCN1_uc001grs.1_Silent_p.G587G	p.G5018G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			97	15283	+			5018			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.15054G>T	CCDS30956.1																																																																																				PASS	0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		20	46	20	46	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186278003	186278003	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:186278003C>T	ENST00000445192.2	+	7	3197	c.3152C>T	c.(3151-3153)aCt>aTt	p.T1051I	PRG4_ENST00000367484.3_Missense_Mutation_p.T580I|PRG4_ENST00000367483.4_Missense_Mutation_p.T1010I|PRG4_ENST00000367486.3_Missense_Mutation_p.T1008I|PRG4_ENST00000367485.4_Missense_Mutation_p.T958I|RNU6-1240P_ENST00000365155.1_RNA	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1051					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T1051I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACGACACCAACTCCCCGCAAG	0.453																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3151-3153)ACT>ATT		proteoglycan 4 isoform A							171.0	180.0	177.0					1																	186278003		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186278003C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3152C>T	1.37:g.186278003C>T	ENSP00000399679:p.Thr1051Ile					PRG4_uc001grt.3_Missense_Mutation_p.T1010I|PRG4_uc009wyl.2_Missense_Mutation_p.T958I|PRG4_uc009wym.2_Missense_Mutation_p.T917I|PRG4_uc010poo.1_RNA	p.T1051I	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	3203	+			1051					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3152C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	8.952	0.968366	0.18659	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.09723	2.95;3.3;3.05;2.99;3.06	3.7	2.76	0.32466	.	1.134190	0.06868	U	0.800305	T	0.09335	0.0230	L	0.27053	0.805	0.20196	N	0.999926	D;P;P;P	0.53745	0.962;0.899;0.838;0.899	B;B;B;B	0.41813	0.367;0.367;0.202;0.367	T	0.34329	-0.9833	10	0.34782	T	0.22	-0.0122	9.3459	0.38109	0.0:0.7808:0.2192:0.0	.	917;958;1051;1010	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	I	1008;580;1010;958;1051	ENSP00000356456:T1008I;ENSP00000356454:T580I;ENSP00000356453:T1010I;ENSP00000356455:T958I;ENSP00000399679:T1051I	ENSP00000356453:T1010I	T	+	2	0	PRG4	184544626	0.000000	0.05858	0.037000	0.18230	0.229000	0.25112	0.016000	0.13377	0.898000	0.36418	0.579000	0.79373	ACT		PASS	0.453	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		11	70	11	70	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186305817	186305817	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:186305817C>T	ENST00000367478.4	-	33	4812	c.4516G>A	c.(4516-4518)Gaa>Aaa	p.E1506K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1506					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E1507K(1)|p.E1506K(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTCTCTTTTTCAGATAATGTC	0.343			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(4516-4518)GAA>AAA		nuclear pore complex-associated protein TPR							76.0	67.0	69.0					1																	186305817		1838	4089	5927	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186305817C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4516G>A	1.37:g.186305817C>T	ENSP00000356448:p.Glu1506Lys						p.E1506K	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	33	4813	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1506			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4516G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413047	0.83449	.	.	ENSG00000047410	ENST00000367478	T	0.27890	1.64	5.74	4.83	0.62350	.	0.045384	0.85682	D	0.000000	T	0.31796	0.0808	M	0.61703	1.905	0.54753	D	0.999988	P	0.38020	0.615	B	0.37091	0.241	T	0.06770	-1.0808	10	0.19147	T	0.46	.	14.9264	0.70881	0.0:0.9314:0.0:0.0686	.	1506	P12270	TPR_HUMAN	K	1506	ENSP00000356448:E1506K	ENSP00000356448:E1506K	E	-	1	0	TPR	184572440	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.578000	0.67450	1.430000	0.47334	0.650000	0.86243	GAA		PASS	0.343	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		8	37	8	37	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196309614	196309614	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:196309614G>T	ENST00000294725.9	-	16	2555	c.1640C>A	c.(1639-1641)aCa>aAa	p.T547K	KCNT2_ENST00000609185.1_Missense_Mutation_p.T497K|KCNT2_ENST00000367431.4_Missense_Mutation_p.T497K|KCNT2_ENST00000451324.2_Missense_Mutation_p.T158K|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.T547K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	547					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.T547K(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCATATGTCTGTAGAATTCAT	0.338																																						uc001gtd.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(1639-1641)ACA>AAA		potassium channel, subfamily T, member 2							74.0	74.0	74.0					1																	196309614		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309614G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1640C>A	1.37:g.196309614G>T	ENSP00000294725:p.Thr547Lys					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T497K|KCNT2_uc001gtf.1_Missense_Mutation_p.T547K|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T547K|KCNT2_uc001gth.1_Missense_Mutation_p.T68K	p.T547K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			16	1700	-			547			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1640C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008024	0.54361	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.29655	2.3;2.29;1.56;2.55	5.95	5.95	0.96441	.	0.285757	0.30356	N	0.009802	T	0.36110	0.0955	M	0.66939	2.045	0.40799	D	0.983328	B;B;B;B;B	0.26120	0.049;0.008;0.005;0.142;0.049	B;B;B;B;B	0.31547	0.132;0.016;0.031;0.096;0.132	T	0.32348	-0.9910	10	0.06757	T	0.87	-11.5253	20.3812	0.98933	0.0:0.0:1.0:0.0	.	547;529;547;497;547	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	K	547;497;368;158;547	ENSP00000356403:T547K;ENSP00000356401:T497K;ENSP00000405474:T158K;ENSP00000294725:T547K	ENSP00000294725:T547K	T	-	2	0	KCNT2	194576237	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.465000	0.66725	2.821000	0.97095	0.650000	0.86243	ACA		PASS	0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		31	72	31	72	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197398679	197398679	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:197398679A>T	ENST00000367400.3	+	8	2912	c.2777A>T	c.(2776-2778)cAg>cTg	p.Q926L	CRB1_ENST00000535699.1_Missense_Mutation_p.Q902L|CRB1_ENST00000367399.2_Missense_Mutation_p.Q814L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.Q407L|CRB1_ENST00000367397.1_Missense_Mutation_p.Q307L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	926	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.Q926L(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						GAGGAGGTTCAGTGGTGTGGA	0.542																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2776-2778)CAG>CTG		crumbs homolog 1 precursor							144.0	124.0	130.0					1																	197398679		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.chr1:197398679A>T		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.2777A>T	1.37:g.197398679A>T	ENSP00000356370:p.Gln926Leu					CRB1_uc010poz.1_Missense_Mutation_p.Q902L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.Q814L|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.Q407L|CRB1_uc001gub.1_Missense_Mutation_p.Q575L	p.Q926L	NM_201253	NP_957705	P82279	CRUM1_HUMAN			8	2912	+			926			Extracellular (Potential).|EGF-like 14.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2777A>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	7.003	0.555170	0.13436	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;T;T	0.86030	-2.06;-2.06;-2.06;1.03;1.03	5.55	-1.22	0.09494	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.72162	0.3426	L	0.28694	0.88	0.28525	N	0.912888	B;P;B;B	0.41848	0.435;0.763;0.082;0.156	B;B;B;B	0.36608	0.085;0.229;0.058;0.026	T	0.63563	-0.6609	9	0.59425	D	0.04	.	5.8966	0.18943	0.5332:0.0:0.3475:0.1193	.	902;814;575;926	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	902;926;814;407;307;575	ENSP00000438786:Q902L;ENSP00000356370:Q926L;ENSP00000356369:Q814L;ENSP00000444556:Q407L;ENSP00000356367:Q307L	ENSP00000356367:Q307L	Q	+	2	0	CRB1	195665302	0.468000	0.25839	0.020000	0.16555	0.015000	0.08874	0.076000	0.14712	-0.493000	0.06678	-0.290000	0.09829	CAG		PASS	0.542	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		50	45	50	45	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197398732	197398732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:197398732C>T	ENST00000367400.3	+	8	2965	c.2830C>T	c.(2830-2832)Caa>Taa	p.Q944*	CRB1_ENST00000535699.1_Nonsense_Mutation_p.Q920*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.Q832*|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Nonsense_Mutation_p.Q425*|CRB1_ENST00000367397.1_Nonsense_Mutation_p.Q325*	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	944	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.Q944*(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						GCCGGTGCTTCAAGGATTTGA	0.498																																						uc001gtz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2830-2832)CAA>TAA		crumbs homolog 1 precursor							84.0	73.0	77.0					1																	197398732		2203	4300	6503	SO:0001587	stop_gained	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197398732C>T		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.2830C>T	1.37:g.197398732C>T	ENSP00000356370:p.Gln944*					CRB1_uc010poz.1_Nonsense_Mutation_p.Q920*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.Q832*|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Nonsense_Mutation_p.Q425*|CRB1_uc001gub.1_Nonsense_Mutation_p.Q593*	p.Q944*	NM_201253	NP_957705	P82279	CRUM1_HUMAN			8	2965	+			944			Extracellular (Potential).|EGF-like 14.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP	ENST00000367400.3	37	c.2830C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747994	0.89663	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	.	.	.	5.55	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.4813	0.44695	0.386:0.4896:0.1244:0.0	.	.	.	.	X	920;944;832;425;325;593	.	ENSP00000356367:Q325X	Q	+	1	0	CRB1	195665355	0.004000	0.15560	0.363000	0.25875	0.195000	0.23768	0.505000	0.22642	0.667000	0.31107	0.655000	0.94253	CAA		PASS	0.498	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		5	53	5	53	---	---	---	---
NR5A2	2494	broad.mit.edu	37	1	200017935	200017935	+	Nonsense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:200017935A>T	ENST00000367362.3	+	5	1345	c.1099A>T	c.(1099-1101)Aga>Tga	p.R367*	NR5A2_ENST00000544748.1_Nonsense_Mutation_p.R295*|NR5A2_ENST00000236914.3_Nonsense_Mutation_p.R321*	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	367	Ligand-binding.				bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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 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)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R367*(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TATCTTCTTCAGAGAACTTAA	0.418																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1099-1101)AGA>TGA		nuclear receptor subfamily 5, group A, member 2							117.0	119.0	118.0					1																	200017935		2203	4300	6503	SO:0001587	stop_gained	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017935A>T	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1099A>T	1.37:g.200017935A>T	ENSP00000356331:p.Arg367*					NR5A2_uc001gvc.2_Nonsense_Mutation_p.R321*|NR5A2_uc009wzh.2_Nonsense_Mutation_p.R327*|NR5A2_uc010pph.1_Nonsense_Mutation_p.R295*	p.R367*	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	1305	+	Prostate(682;0.19)		367			Ligand-binding.		B4E2P3|O95642|Q147U3	Nonsense_Mutation	SNP	ENST00000367362.3	37	c.1099A>T	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	A	40	8.081844	0.98646	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	.	.	.	5.33	-3.43	0.04810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2217	0.86959	0.5708:0.4292:0.0:0.0	.	.	.	.	X	367;321;295;287	.	.	R	+	1	2	NR5A2	198284558	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	1.299000	0.33424	-0.361000	0.08125	-0.313000	0.08912	AGA		PASS	0.418	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			33	59	33	59	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201029835	201029835	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:201029835T>A	ENST00000362061.3	-	26	3591	c.3365A>T	c.(3364-3366)tAc>tTc	p.Y1122F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.Y1122F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1122					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.Y1122F(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)	AAACATCAGGTATTCAAAGTA	0.527																																						uc001gvv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3364-3366)TAC>TTC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						261.0	246.0	251.0					1																	201029835		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201029835T>A	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.3365A>T	1.37:g.201029835T>A	ENSP00000355192:p.Tyr1122Phe						p.Y1122F	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			26	3592	-			1122			IV.|Helical; Name=S1 of repeat IV; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3365A>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672409	0.88348	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97352	-4.35;-4.35	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.98566	0.9521	M	0.88906	2.99	0.58432	D	0.999995	D	0.76494	0.999	D	0.83275	0.996	D	0.99758	1.1020	10	0.87932	D	0	.	14.9443	0.71016	0.0:0.0:0.0:1.0	.	1122	Q13698	CAC1S_HUMAN	F	1122	ENSP00000355192:Y1122F;ENSP00000356307:Y1122F	ENSP00000355192:Y1122F	Y	-	2	0	CACNA1S	199296458	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	8.007000	0.88571	2.057000	0.61298	0.533000	0.62120	TAC		PASS	0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		76	73	76	73	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201047033	201047033	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:201047033G>T	ENST00000362061.3	-	11	1819	c.1593C>A	c.(1591-1593)cgC>cgA	p.R531R	CACNA1S_ENST00000367338.3_Silent_p.R531R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	531					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.R531R(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)	TCCTCAGGAGGCGGATGCAGC	0.642																																						uc001gvv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1591-1593)CGC>CGA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						48.0	41.0	43.0					1																	201047033		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.chr1:201047033G>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.1593C>A	1.37:g.201047033G>T							p.R531R	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			11	1820	-			531			II.|Helical; Name=S4 of repeat II; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1593C>A	CCDS1407.1																																																																																				PASS	0.642	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		10	14	10	14	---	---	---	---
UBE2T	29089	broad.mit.edu	37	1	202302223	202302223	+	Splice_Site	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:202302223T>A	ENST00000367274.4	-	6	534		c.e6-2			NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		large_intestine(1)|lung(3)|skin(1)	5						TTCTGAGGACTGAGATGAAAT	0.403																																						uc001gxx.3																			1	Unknown(1)		lung(1)		0						c.e6-1		ubiquitin-conjugating enzyme E2T							82.0	87.0	85.0					1																	202302223		2203	4300	6503	SO:0001630	splice_region_variant	29089				DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr1:202302223T>A	AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"""Ubiquitin-conjugating enzymes E2"""	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.385-2A>T	1.37:g.202302223T>A							p.S129_splice	NM_014176	NP_054895	Q9NPD8	UBE2T_HUMAN			6	521	-								Q2TU36	Splice_Site	SNP	ENST00000367274.4	37	c.385_splice	CCDS1425.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082475	0.76528	.	.	ENSG00000077152	ENST00000367274	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.421	0.67183	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBE2T	200568846	1.000000	0.71417	0.977000	0.42913	0.890000	0.51754	5.674000	0.68117	2.053000	0.61076	0.482000	0.46254	.		PASS	0.403	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099163.1	NM_014176	Intron	38	42	38	42	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202727593	202727593	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:202727593T>A	ENST00000367265.3	-	9	2287	c.1123A>T	c.(1123-1125)Agg>Tgg	p.R375W	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.R411W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	375					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R375W(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTATAGTCCCTGGCTGCTTGT	0.388																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(1123-1125)AGG>TGG		jumonji, AT rich interactive domain 1B							121.0	105.0	110.0					1																	202727593		2202	4300	6502	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202727593T>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1123A>T	1.37:g.202727593T>A	ENSP00000356234:p.Arg375Trp					KDM5B_uc009xag.2_Missense_Mutation_p.R411W|KDM5B_uc001gyg.1_Missense_Mutation_p.R217W	p.R375W	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			9	1239	-			375					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1123A>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979435	0.92982	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72394	-0.65;-0.65;-0.65	5.52	5.52	0.82312	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89541	0.3792	10	0.87932	D	0	-25.0525	12.2541	0.54615	0.0:0.0:0.1807:0.8193	.	411;375	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	W	375;217;411;217	ENSP00000356234:R375W;ENSP00000356233:R411W;ENSP00000235790:R217W	ENSP00000235790:R217W	R	-	1	2	KDM5B	200994216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.834000	0.48167	2.232000	0.73038	0.528000	0.53228	AGG		PASS	0.388	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		13	23	13	23	---	---	---	---
PRELP	5549	broad.mit.edu	37	1	203452366	203452366	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:203452366C>T	ENST00000343110.2	+	2	181	c.54C>T	c.(52-54)gcC>gcT	p.A18A		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	18					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.A18A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCAGTGGCCCAAGGCCAGC	0.617																																						uc001gzs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(52-54)GCC>GCT		proline arginine-rich end leucine-rich repeat							62.0	68.0	66.0					1																	203452366		2203	4300	6503	SO:0001819	synonymous_variant	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452366C>T	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.54C>T	1.37:g.203452366C>T						PRELP_uc001gzt.2_Silent_p.A18A	p.A18A	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	254	+			18					Q6FG38	Silent	SNP	ENST00000343110.2	37	c.54C>T	CCDS1438.1																																																																																				PASS	0.617	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		25	57	25	57	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204426972	204426972	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:204426972C>A	ENST00000367187.3	-	10	2153	c.1597G>T	c.(1597-1599)Gtc>Ttc	p.V533F	PIK3C2B_ENST00000496872.1_5'Flank|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.V533F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	533					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.V533F(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACGGACTGGACCACCCTGTCA	0.647																																						uc001haw.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(1597-1599)GTC>TTC		phosphoinositide-3-kinase, class 2 beta							53.0	48.0	50.0					1																	204426972		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204426972C>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1597G>T	1.37:g.204426972C>A	ENSP00000356155:p.Val533Phe					PIK3C2B_uc010pqv.1_Missense_Mutation_p.V533F|PIK3C2B_uc001hax.1_Missense_Mutation_p.V533F|PIK3C2B_uc009xbd.1_RNA	p.V533F	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		10	2076	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		533					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1597G>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042292	0.75732	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.62639	0.01;0.03	5.37	4.46	0.54185	.	0.153898	0.42172	D	0.000750	T	0.61185	0.2327	M	0.66939	2.045	0.41474	D	0.988124	P;B	0.48230	0.907;0.241	P;B	0.45449	0.481;0.172	T	0.65092	-0.6252	10	0.72032	D	0.01	.	7.3323	0.26590	0.0:0.767:0.0:0.233	.	533;533	F5GWN5;O00750	.;P3C2B_HUMAN	F	533	ENSP00000356155:V533F;ENSP00000400561:V533F	ENSP00000356155:V533F	V	-	1	0	PIK3C2B	202693595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.258000	0.58822	1.264000	0.44198	0.655000	0.94253	GTC		PASS	0.647	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		9	21	9	21	---	---	---	---
C1orf74	148304	broad.mit.edu	37	1	209956925	209956925	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:209956925C>T	ENST00000294811.1	-	2	311	c.55G>A	c.(55-57)Gct>Act	p.A19T		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	19								p.A19T(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GTCTGCTGAGCAGCTGCCACC	0.597																																						uc001hhp.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(55-57)GCT>ACT		hypothetical protein LOC148304							82.0	85.0	84.0					1																	209956925		2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956925C>T	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.55G>A	1.37:g.209956925C>T	ENSP00000294811:p.Ala19Thr						p.A19T	NM_152485	NP_689698	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	298	-			19						Missense_Mutation	SNP	ENST00000294811.1	37	c.55G>A	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713433	0.89112	.	.	ENSG00000162757	ENST00000294811	T	0.47869	0.83	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.69022	-0.5255	10	0.87932	D	0	-9.4392	11.9515	0.52959	0.0:0.9203:0.0:0.0797	.	19	Q96LT6	CA074_HUMAN	T	19	ENSP00000294811:A19T	ENSP00000294811:A19T	A	-	1	0	C1orf74	208023548	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.324000	0.72896	2.474000	0.83562	0.650000	0.86243	GCT		PASS	0.597	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		27	71	27	71	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210006670	210006670	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:210006670A>T	ENST00000491415.2	+	4	586	c.529A>T	c.(529-531)Agt>Tgt	p.S177C		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	177					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S177C(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GGAAGAGGAAAGTGGAGACAA	0.448																																						uc001hhr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)AGT>TGT		digestive-organ expansion factor homolog							128.0	122.0	124.0					1																	210006670		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210006670A>T	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.529A>T	1.37:g.210006670A>T	ENSP00000419005:p.Ser177Cys					C1orf107_uc009xcu.1_Translation_Start_Site	p.S177C	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	4	605	+			177					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.529A>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347009	0.82022	.	.	ENSG00000117597	ENST00000491415	T	0.48836	0.8	5.68	3.35	0.38373	.	0.573127	0.21745	N	0.069762	T	0.45637	0.1352	L	0.50333	1.59	0.09310	N	1	D	0.57257	0.979	P	0.47044	0.535	T	0.34502	-0.9826	10	0.49607	T	0.09	-1.5329	10.1588	0.42838	0.8627:0.0:0.1373:0.0	.	177	Q68CQ4	DIEXF_HUMAN	C	177	ENSP00000419005:S177C	ENSP00000419005:S177C	S	+	1	0	DIEXF	208073293	0.997000	0.39634	0.006000	0.13384	0.769000	0.43574	3.647000	0.54403	1.004000	0.39156	0.528000	0.53228	AGT		PASS	0.448	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		13	56	13	56	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212151614	212151614	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:212151614C>A	ENST00000366994.3	-	11	1574	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Splice_Site_p.L490L|INTS7_ENST00000366992.3_Splice_Site_p.L490L|INTS7_ENST00000440600.2_Splice_Site_p.L441L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	490					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.L490L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCTTTTTACCAGAAGTTCTT	0.428																																						uc001hiw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1468-1470)CTG>CTT		integrator complex subunit 7							143.0	139.0	140.0					1																	212151614		2203	4300	6503	SO:0001630	splice_region_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212151614C>A	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1470+1G>T	1.37:g.212151614C>A						INTS7_uc009xdb.1_Silent_p.L490L|INTS7_uc001hix.1_Silent_p.L366L|INTS7_uc001hiy.1_Silent_p.L490L|INTS7_uc010pta.1_Silent_p.L441L	p.L490L	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	11	1575	-			490					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.1470G>T	CCDS1501.1																																																																																				PASS	0.428	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	Silent	23	100	23	100	---	---	---	---
CAPN2	824	broad.mit.edu	37	1	223943351	223943351	+	Splice_Site	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:223943351G>T	ENST00000295006.5	+	10	1614	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D	CAPN2_ENST00000433674.2_Splice_Site_p.E357D	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	435	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.E435D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GCATCTATGAGGTGCAGAGCG	0.617																																						uc001hob.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)|skin(1)	5						c.(1303-1305)GAG>GAT		calpain 2 isoform 1							78.0	67.0	71.0					1																	223943351		2203	4300	6503	SO:0001630	splice_region_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223943351G>T	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1305+1G>T	1.37:g.223943351G>T						CAPN2_uc010puy.1_Missense_Mutation_p.E357D|CAPN2_uc001hoc.2_5'Flank	p.E435D	NM_001748	NP_001739	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	10	1529	+			435			Domain III.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1305G>T	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716401	0.48622	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.88046	-2.33;-2.33	5.05	5.05	0.67936	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.87877	0.6288	M	0.67700	2.07	0.80722	D	1	B;P	0.37083	0.006;0.581	B;B	0.39068	0.036;0.289	D	0.89026	0.3438	10	0.66056	D	0.02	.	18.7897	0.91968	0.0:0.0:1.0:0.0	.	357;435	B7ZA96;P17655	.;CAN2_HUMAN	D	357;435;464	ENSP00000413158:E357D;ENSP00000295006:E435D	ENSP00000295006:E435D	E	+	3	2	CAPN2	222009974	1.000000	0.71417	0.997000	0.53966	0.175000	0.22909	3.959000	0.56744	2.507000	0.84556	0.563000	0.77884	GAG		PASS	0.617	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	Missense_Mutation	10	10	10	10	---	---	---	---
PRSS38	339501	broad.mit.edu	37	1	228005074	228005074	+	Missense_Mutation	SNP	G	G	T	rs74588116	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:228005074G>T	ENST00000366757.3	+	3	500	c.476G>T	c.(475-477)cGc>cTc	p.R159L		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	159	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R159L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGAAGACCCGCATTGTGTTT	0.562																																						uc001hrh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(475-477)CGC>CTC		marapsin 2 precursor							176.0	148.0	157.0					1																	228005074		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228005074G>T		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.476G>T	1.37:g.228005074G>T	ENSP00000355719:p.Arg159Leu						p.R159L	NM_183062	NP_898885	A1L453	PRS38_HUMAN			3	476	+			159			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.476G>T	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547254	0.45383	.	.	ENSG00000185888	ENST00000366757	T	0.60672	0.17	4.34	-1.59	0.08453	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.935189	0.08855	N	0.883929	T	0.57695	0.2071	L	0.39020	1.185	0.09310	N	1	D	0.53151	0.958	P	0.54100	0.742	T	0.56589	-0.7954	10	0.66056	D	0.02	.	11.2767	0.49172	0.0897:0.6783:0.2321:0.0	.	159	A1L453	PRS38_HUMAN	L	159	ENSP00000355719:R159L	ENSP00000355719:R159L	R	+	2	0	PRSS38	226071697	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.217000	0.17603	-0.241000	0.09681	-0.165000	0.13383	CGC		PASS	0.562	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		20	26	20	26	---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229676360	229676360	+	Missense_Mutation	SNP	A	A	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:229676360A>C	ENST00000344517.4	-	5	1238	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	399	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.F399C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TACTGCTCCAAAGAAACCAGC	0.393																																						uc001htp.3																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1195-1197)TTT>TGT		ATP-binding cassette, sub-family B, member 10							99.0	96.0	97.0					1																	229676360		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229676360A>C	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1196T>G	1.37:g.229676360A>C	ENSP00000355637:p.Phe399Cys						p.F399C	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			5	1239	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	399			Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).|ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1196T>G	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.145323	0.57044	.	.	ENSG00000135776	ENST00000344517	D	0.90385	-2.66	5.34	5.34	0.76211	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.094778	0.85682	D	0.000000	D	0.95582	0.8564	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.95886	0.8903	10	0.54805	T	0.06	-21.9178	15.6065	0.76676	1.0:0.0:0.0:0.0	.	399	Q9NRK6	ABCBA_HUMAN	C	399	ENSP00000355637:F399C	ENSP00000355637:F399C	F	-	2	0	ABCB10	227742983	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	6.873000	0.75541	2.134000	0.65973	0.482000	0.46254	TTT		PASS	0.393	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		33	44	33	44	---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236396138	236396138	+	Splice_Site	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:236396138G>A	ENST00000354619.5	-	9	876	c.675C>T	c.(673-675)ggC>ggT	p.G225G		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	225					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.G225G(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	CATCATCTTCGCCTAAAAGAG	0.274																																						uc001hxt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(673-675)GGC>GGT		endoplasmic reticulum oxidoreductin 1-Lbeta							43.0	45.0	45.0					1																	236396138		2202	4299	6501	SO:0001630	splice_region_variant	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236396138G>A	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.674-1C>T	1.37:g.236396138G>A							p.G225G	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		9	931	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	225					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Silent	SNP	ENST00000354619.5	37	c.675C>T	CCDS31064.1																																																																																				PASS	0.274	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	Silent	6	17	6	17	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236746380	236746380	+	Silent	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:236746380C>G	ENST00000366582.3	-	18	2472	c.2358G>C	c.(2356-2358)tcG>tcC	p.S786S	HEATR1_ENST00000366581.2_Silent_p.S786S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	786					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.S786S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAAGAAAAACCGAGTCCTCCA	0.413																																						uc001hyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2356-2358)TCG>TCC		protein BAP28							127.0	127.0	127.0					1																	236746380		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746380C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2358G>C	1.37:g.236746380C>G						HEATR1_uc009xgh.1_Silent_p.S29S	p.S786S	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		18	2483	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	786					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2358G>C	CCDS31066.1																																																																																				PASS	0.413	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		39	94	39	94	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237755149	237755149	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:237755149C>A	ENST00000366574.2	+	32	4588	c.4271C>A	c.(4270-4272)tCc>tAc	p.S1424Y	RYR2_ENST00000542537.1_Missense_Mutation_p.S1408Y|RYR2_ENST00000360064.6_Missense_Mutation_p.S1422Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1424	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S1422Y(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)			ATGCAAACGTCCACGGTATGA	0.398																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4270-4272)TCC>TAC		cardiac muscle ryanodine receptor							145.0	142.0	143.0					1																	237755149		1916	4130	6046	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.chr1:237755149C>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.4271C>A	1.37:g.237755149C>A	ENSP00000355533:p.Ser1424Tyr						p.S1424Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		32	4391	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1424			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4271C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	19.60	3.858847	0.71834	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.70164	-0.46;-0.46;-0.46	5.32	5.32	0.75619	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.195014	0.32533	N	0.005976	T	0.58921	0.2156	N	0.14661	0.345	0.80722	D	1	P	0.43938	0.822	P	0.45195	0.473	T	0.65878	-0.6061	10	0.72032	D	0.01	.	19.186	0.93644	0.0:1.0:0.0:0.0	.	1424	Q92736	RYR2_HUMAN	Y	1424;1422;1408	ENSP00000355533:S1424Y;ENSP00000353174:S1422Y;ENSP00000443798:S1408Y	ENSP00000353174:S1422Y	S	+	2	0	RYR2	235821772	1.000000	0.71417	0.985000	0.45067	0.913000	0.54294	6.831000	0.75324	2.757000	0.94681	0.650000	0.86243	TCC		PASS	0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	8	9	8	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237777541	237777541	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:237777541C>A	ENST00000366574.2	+	37	5430	c.5113C>A	c.(5113-5115)Ctg>Atg	p.L1705M	RYR2_ENST00000542537.1_Missense_Mutation_p.L1689M|RYR2_ENST00000360064.6_Missense_Mutation_p.L1703M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1705	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L1703M(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)			CTACTATGACCTGCTGATTGA	0.542																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5113-5115)CTG>ATG		cardiac muscle ryanodine receptor							63.0	64.0	64.0					1																	237777541		2171	4271	6442	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.chr1:237777541C>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.5113C>A	1.37:g.237777541C>A	ENSP00000355533:p.Leu1705Met						p.L1705M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5233	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1705			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5113C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017429	0.54576	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.75367	-0.93;-0.93;-0.93	5.54	3.65	0.41850	.	0.000000	0.47093	D	0.000250	D	0.84279	0.5437	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.84106	0.0398	10	0.87932	D	0	.	8.7601	0.34669	0.0:0.6908:0.0:0.3092	.	1705	Q92736	RYR2_HUMAN	M	1705;1703;1689	ENSP00000355533:L1705M;ENSP00000353174:L1703M;ENSP00000443798:L1689M	ENSP00000353174:L1703M	L	+	1	2	RYR2	235844164	0.996000	0.38824	1.000000	0.80357	0.952000	0.60782	0.907000	0.28531	0.695000	0.31675	0.655000	0.94253	CTG		PASS	0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	8	7	8	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237817615	237817615	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:237817615C>A	ENST00000366574.2	+	52	8183	c.7866C>A	c.(7864-7866)tgC>tgA	p.C2622*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.C2606*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.C2620*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2622	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.C2620*(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)			AATATTACTGCCTGCCTGGAG	0.378																																						uc001hyl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7864-7866)TGC>TGA		cardiac muscle ryanodine receptor							93.0	93.0	93.0					1																	237817615		1849	4093	5942	SO:0001587	stop_gained	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.chr1:237817615C>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.7866C>A	1.37:g.237817615C>A	ENSP00000355533:p.Cys2622*						p.C2622*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		52	7986	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2622			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.7866C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	49	15.348365	0.99831	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.77	2.8	0.32819	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2471	8.1498	0.31134	0.0:0.6079:0.0:0.3921	.	.	.	.	X	2622;2620;2606	.	ENSP00000353174:C2620X	C	+	3	2	RYR2	235884238	0.844000	0.29557	1.000000	0.80357	0.994000	0.84299	-0.008000	0.12788	0.852000	0.35287	0.585000	0.79938	TGC		PASS	0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	32	10	32	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947411	237947411	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:237947411G>T	ENST00000366574.2	+	90	12716	c.12399G>T	c.(12397-12399)ctG>ctT	p.L4133L	RYR2_ENST00000542537.1_Silent_p.L4117L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L4139L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4133					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.L4131L(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)			AGCCCTTTCTGGGCCGCATCG	0.517																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12397-12399)CTG>CTT		cardiac muscle ryanodine receptor							67.0	67.0	67.0					1																	237947411		1917	4133	6050	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947411G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12399G>T	1.37:g.237947411G>T						RYR2_uc010pya.1_Silent_p.L548L	p.L4133L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12519	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4133					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12399G>T	CCDS55691.1																																																																																				PASS	0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	16	15	16	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947456	237947456	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:237947456C>A	ENST00000366574.2	+	90	12761	c.12444C>A	c.(12442-12444)gtC>gtA	p.V4148V	RYR2_ENST00000542537.1_Silent_p.V4132V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.V4154V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4148					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.V4146V(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)			TCGAGAGGGTCTATTTTGAAA	0.502																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12442-12444)GTC>GTA		cardiac muscle ryanodine receptor							82.0	84.0	83.0					1																	237947456		1927	4138	6065	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947456C>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.12444C>A	1.37:g.237947456C>A						RYR2_uc010pya.1_Silent_p.V563V	p.V4148V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12564	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4148					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12444C>A	CCDS55691.1																																																																																				PASS	0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	24	12	24	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	240939492	240939492	+	Silent	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:240939492T>G	ENST00000366565.1	-	18	1816	c.1435A>C	c.(1435-1437)Agg>Cgg	p.R479R	RGS7_ENST00000366563.1_3'UTR|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000366564.1_Silent_p.R461R|RGS7_ENST00000366562.4_Silent_p.R461R|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000348120.2_3'UTR	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	0					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R479R(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTGTTAACCTCTTGGACGTG	0.398																																						uc001hyv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(1435-1437)AGG>CGG		regulator of G-protein signaling 7							122.0	109.0	114.0					1																	240939492		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240939492T>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000366565.1:c.1435A>C	1.37:g.240939492T>G						RGS7_uc010pyh.1_Intron|RGS7_uc010pyj.1_3'UTR|RGS7_uc001hyu.2_3'UTR|RGS7_uc009xgn.1_3'UTR|RGS7_uc001hyw.2_Silent_p.R461R|RGS7_uc010pyi.1_RNA|RGS7_uc001hyt.2_3'UTR	p.R479R	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		18	1765	-		all_cancers(173;0.0131)	Error:Variant_position_missing_in_P49802_after_alignment					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000366565.1	37	c.1435A>C	CCDS31071.1																																																																																				PASS	0.398	RGS7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096719.3	NM_002924		15	53	15	53	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247024390	247024390	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:247024390C>A	ENST00000391829.2	-	29	4066	c.3943G>T	c.(3943-3945)Gat>Tat	p.D1315Y	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.D1350Y|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D1324Y			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1315	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1315Y(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTAGTCTCATCGGATGTGATT	0.468																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(3943-3945)GAT>TAT		transcription factor ELYS							82.0	71.0	75.0					1																	247024390		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024390C>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3943G>T	1.37:g.247024390C>A	ENSP00000375705:p.Asp1315Tyr					AHCTF1_uc001ibv.1_Missense_Mutation_p.D1324Y|AHCTF1_uc009xgs.1_Missense_Mutation_p.D176Y|AHCTF1_uc001ibw.1_RNA	p.D1315Y	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		28	3950	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1315			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.3943G>T		.	.	.	.	.	.	.	.	.	.	C	14.84	2.656876	0.47467	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.39229	1.09;1.09;1.09	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000002	T	0.63474	0.2514	M	0.63843	1.955	0.39889	D	0.973747	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.991;0.966;0.925	T	0.63712	-0.6575	10	0.54805	T	0.06	-13.0387	18.2821	0.90102	0.0:1.0:0.0:0.0	.	176;1350;1315	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	Y	1350;1324;1315	ENSP00000355464:D1350Y;ENSP00000355465:D1324Y;ENSP00000375705:D1315Y	ENSP00000355465:D1324Y	D	-	1	0	AHCTF1	245091013	1.000000	0.71417	0.308000	0.25141	0.004000	0.04260	4.808000	0.62583	2.815000	0.96918	0.603000	0.83216	GAT		PASS	0.468	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		13	32	13	32	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248039721	248039721	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:248039721C>T	ENST00000366481.3	+	6	1439	c.1391C>T	c.(1390-1392)gCa>gTa	p.A464V	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	464						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A464V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACAACAATAGCAGGGTCAGGA	0.428																																						uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1390-1392)GCA>GTA		tripartite motif-containing 58							103.0	98.0	99.0					1																	248039721		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039721C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1391C>T	1.37:g.248039721C>T	ENSP00000355437:p.Ala464Val					OR2W3_uc001idp.1_Intron	p.A464V	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1439	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	464					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1391C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248748	0.22880	.	.	ENSG00000162722	ENST00000366481	T	0.61274	0.12	3.63	-3.95	0.04118	Concanavalin A-like lectin/glucanase (1);	1.516930	0.03962	N	0.290219	T	0.39860	0.1094	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.11108	-1.0601	10	0.40728	T	0.16	.	1.2465	0.01973	0.1504:0.27:0.1487:0.4308	.	464	Q8NG06	TRI58_HUMAN	V	464	ENSP00000355437:A464V	ENSP00000355437:A464V	A	+	2	0	TRIM58	246106344	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.223000	0.01214	-0.840000	0.04206	0.650000	0.86243	GCA		PASS	0.428	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		19	66	19	66	---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248085221	248085221	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:248085221G>A	ENST00000319968.4	+	1	902	c.902G>A	c.(901-903)aGg>aAg	p.R301K		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R301K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCTGACAAGGTGTATGGGT	0.443																																						uc010pzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)AGG>AAG		olfactory receptor, family 2, subfamily T,							156.0	152.0	154.0					1																	248085221		2203	4300	6503	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085221G>A		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.902G>A	1.37:g.248085221G>A	ENSP00000326225:p.Arg301Lys						p.R301K	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	902	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	301			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.902G>A	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	G	0.113	-1.135470	0.01742	.	.	ENSG00000177462	ENST00000319968	T	0.35973	1.28	3.54	0.688	0.18027	.	0.928799	0.08661	N	0.912382	T	0.14485	0.0350	N	0.05050	-0.12	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27905	-1.0060	10	0.02654	T	1	.	7.4323	0.27134	0.763:0.0:0.237:0.0	.	301	A6NH00	OR2T8_HUMAN	K	301	ENSP00000326225:R301K	ENSP00000326225:R301K	R	+	2	0	OR2T8	246151844	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.126000	0.10563	0.266000	0.21894	-0.310000	0.09108	AGG		PASS	0.443	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		25	57	25	57	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551326	248551326	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:248551326G>T	ENST00000355728.2	+	1	417	c.417G>T	c.(415-417)cgG>cgT	p.R139R		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139R(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGCTGGCGGGTCTGCTGGA	0.582																																						uc001iei.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(415-417)CGG>CGT		olfactory receptor, family 2, subfamily T,							81.0	78.0	79.0					1																	248551326		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551326G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.417G>T	1.37:g.248551326G>T							p.R139R	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	417	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		139			Cytoplasmic (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.417G>T	CCDS31114.1																																																																																				PASS	0.582	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		14	35	14	35	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616139	248616139	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:248616139T>C	ENST00000342927.3	+	1	63	c.41T>C	c.(40-42)gTc>gCc	p.V14A		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V14S(2)|p.V14A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTAACTTCGTCCTCACAGGC	0.502																																						uc001iek.1																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(40-42)GTC>GCC		olfactory receptor, family 2, subfamily T,							69.0	84.0	79.0					1																	248616139		2175	4265	6440	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616139T>C	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.41T>C	1.37:g.248616139T>C	ENSP00000343062:p.Val14Ala						p.V14A	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	41	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		14			Extracellular (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.41T>C	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	t	7.036	0.561674	0.13498	.	.	ENSG00000196240	ENST00000342927	T	0.06371	3.31	3.2	3.2	0.36748	.	0.430869	0.19605	N	0.110283	T	0.09379	0.0231	M	0.66560	2.04	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.13737	-1.0498	10	0.72032	D	0.01	.	10.611	0.45421	0.0:0.0:0.0:1.0	.	14	Q6IF00	OR2T2_HUMAN	A	14	ENSP00000343062:V14A	ENSP00000343062:V14A	V	+	2	0	OR2T2	246682762	0.002000	0.14202	0.081000	0.20488	0.163000	0.22366	1.038000	0.30254	1.325000	0.45301	0.248000	0.18094	GTC		PASS	0.502	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		9	52	9	52	---	---	---	---
APOB	338	broad.mit.edu	37	2	21230480	21230480	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:21230480C>A	ENST00000233242.1	-	26	9387	c.9260G>T	c.(9259-9261)tGg>tTg	p.W3087L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3087					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.W3087L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTACTTGCCAACTTGCTTG	0.408																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9259-9261)TGG>TTG		apolipoprotein B precursor	Atorvastatin(DB01076)						102.0	103.0	103.0					2																	21230480		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230480C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9260G>T	2.37:g.21230480C>A	ENSP00000233242:p.Trp3087Leu						p.W3087L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9388	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3087					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9260G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015748	0.54468	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.35973	1.28	5.87	5.87	0.94306	.	0.081225	0.51477	D	0.000094	T	0.64046	0.2563	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.65459	-0.6163	10	0.72032	D	0.01	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	3087	P04114	APOB_HUMAN	L	3087	ENSP00000233242:W3087L	ENSP00000233242:W3087L	W	-	2	0	APOB	21083985	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.042000	0.70996	2.780000	0.95670	0.655000	0.94253	TGG		PASS	0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			12	65	12	65	---	---	---	---
APOB	338	broad.mit.edu	37	2	21255445	21255445	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:21255445G>A	ENST00000233242.1	-	10	1260	c.1133C>T	c.(1132-1134)aCt>aTt	p.T378I	APOB_ENST00000399256.4_Missense_Mutation_p.T378I	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	378	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T378I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTTGTAAAGTGATGGGGCT	0.498																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(1132-1134)ACT>ATT		apolipoprotein B precursor	Atorvastatin(DB01076)						49.0	44.0	46.0					2																	21255445		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21255445G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1133C>T	2.37:g.21255445G>A	ENSP00000233242:p.Thr378Ile						p.T378I	NM_000384	NP_000375	P04114	APOB_HUMAN			10	1261	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		378			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1133C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891105	0.91889	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.38077	1.16;1.16	5.41	5.41	0.78517	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.64402	D	0.000005	T	0.63082	0.2481	M	0.77616	2.38	0.51012	D	0.999905	D	0.76494	0.999	D	0.73708	0.981	T	0.62812	-0.6775	10	0.46703	T	0.11	.	19.5742	0.95434	0.0:0.0:1.0:0.0	.	378	P04114	APOB_HUMAN	I	378	ENSP00000233242:T378I;ENSP00000382200:T378I	ENSP00000233242:T378I	T	-	2	0	APOB	21108950	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.122000	0.94380	2.702000	0.92279	0.650000	0.86243	ACT		PASS	0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	8	8	8	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26696407	26696407	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:26696407T>C	ENST00000272371.2	-	28	3563	c.3437A>G	c.(3436-3438)aAg>aGg	p.K1146R	OTOF_ENST00000339598.3_Missense_Mutation_p.K399R|OTOF_ENST00000402415.3_Missense_Mutation_p.K456R|OTOF_ENST00000338581.6_Missense_Mutation_p.K399R|OTOF_ENST00000403946.3_Missense_Mutation_p.K1146R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1146					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.K399R(1)|p.K1146R(1)|p.K456R(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCACCCGCTTTAGGTCCCG	0.622																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(3436-3438)AAG>AGG		otoferlin isoform a							49.0	52.0	51.0					2																	26696407		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696407T>C	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3437A>G	2.37:g.26696407T>C	ENSP00000272371:p.Lys1146Arg					OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Missense_Mutation_p.K399R|OTOF_uc002rhi.2_Missense_Mutation_p.K456R|OTOF_uc002rhj.2_Missense_Mutation_p.K399R	p.K1146R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			28	3564	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1146			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.3437A>G	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490859	0.84962	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.14	5.14	0.70334	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	L	0.61036	1.89	0.58432	D	0.999999	P;B;D;B	0.69078	0.87;0.191;0.997;0.358	P;B;D;B	0.64144	0.596;0.292;0.922;0.377	D	0.89826	0.3992	10	0.72032	D	0.01	-36.5136	14.613	0.68529	0.0:0.0:0.0:1.0	.	1146;399;456;399	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	R	399;399;456;1146;1146	ENSP00000345137:K399R;ENSP00000344521:K399R;ENSP00000383906:K456R;ENSP00000272371:K1146R;ENSP00000385255:K1146R	ENSP00000272371:K1146R	K	-	2	0	OTOF	26549911	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.973000	0.88032	1.944000	0.56390	0.352000	0.21897	AAG		PASS	0.622	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	20	11	20	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26696417	26696417	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:26696417G>T	ENST00000272371.2	-	28	3553	c.3427C>A	c.(3427-3429)Cgg>Agg	p.R1143R	OTOF_ENST00000339598.3_Silent_p.R396R|OTOF_ENST00000402415.3_Silent_p.R453R|OTOF_ENST00000338581.6_Silent_p.R396R|OTOF_ENST00000403946.3_Silent_p.R1143R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1143					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.R1143R(1)|p.R453R(1)|p.R396R(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTAGGTCCCGTAGGCCCCAG	0.612																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(3427-3429)CGG>AGG		otoferlin isoform a							43.0	47.0	45.0					2																	26696417		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696417G>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3427C>A	2.37:g.26696417G>T						OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Silent_p.R396R|OTOF_uc002rhi.2_Silent_p.R453R|OTOF_uc002rhj.2_Silent_p.R396R	p.R1143R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			28	3554	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1143			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.3427C>A	CCDS1725.1																																																																																				PASS	0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	19	11	19	---	---	---	---
LCLAT1	253558	broad.mit.edu	37	2	30863433	30863433	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:30863433G>A	ENST00000309052.4	+	7	1402	c.1193G>A	c.(1192-1194)tGt>tAt	p.C398Y	LCLAT1_ENST00000540623.1_Missense_Mutation_p.C360Y|LCLAT1_ENST00000379509.3_Missense_Mutation_p.C360Y|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	398					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.C398Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GAACTTGCATGTTACCGACTT	0.328																																						uc002rnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1192-1194)TGT>TAT		lysocardiolipin acyltransferase 1 isoform 1							96.0	97.0	96.0					2																	30863433		2203	4300	6503	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30863433G>A	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1193G>A	2.37:g.30863433G>A	ENSP00000310551:p.Cys398Tyr					LCLAT1_uc010ymp.1_Missense_Mutation_p.C236Y|LCLAT1_uc002rnl.2_Missense_Mutation_p.C360Y|LCLAT1_uc010ymq.1_Missense_Mutation_p.C360Y	p.C398Y	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN			7	1402	+			398					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.1193G>A	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270206	0.23221	.	.	ENSG00000172954	ENST00000379509;ENST00000309052;ENST00000540623	T;T;T	0.30714	1.56;1.52;1.56	6.03	5.14	0.70334	.	0.040621	0.85682	D	0.000000	T	0.31482	0.0798	L	0.32530	0.975	0.58432	D	0.999995	D	0.60575	0.988	P	0.50590	0.645	T	0.03630	-1.1018	10	0.09590	T	0.72	-25.3537	16.4686	0.84094	0.0:0.0:0.8679:0.1321	.	398	Q6UWP7	LCLT1_HUMAN	Y	360;398;360	ENSP00000368823:C360Y;ENSP00000310551:C398Y;ENSP00000442857:C360Y	ENSP00000310551:C398Y	C	+	2	0	LCLAT1	30716937	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.061000	0.71148	1.499000	0.48617	0.557000	0.71058	TGT		PASS	0.328	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		40	28	40	28	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31595154	31595154	+	Missense_Mutation	SNP	C	C	G	rs200795066	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:31595154C>G	ENST00000379416.3	-	17	1844	c.1796G>C	c.(1795-1797)cGc>cCc	p.R599P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	599					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.R599P(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)	ATTCTCGTAGCGAGGAATGTC	0.632																																					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.(1795-1797)CGC>CCC		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)						125.0	128.0	127.0					2																	31595154		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.chr2:31595154C>G	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.1796G>C	2.37:g.31595154C>G	ENSP00000368727:p.Arg599Pro						p.R599P	NM_000379	NP_000370	P47989	XDH_HUMAN			17	1875	-	Acute lymphoblastic leukemia(172;0.155)		599					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1796G>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	4.591	0.109793	0.08780	.	.	ENSG00000158125	ENST00000379416	T	0.17854	2.25	6.04	1.78	0.24846	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.452490	0.26895	N	0.021943	T	0.06462	0.0166	N	0.10972	0.075	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.26815	-1.0092	10	0.24483	T	0.36	.	2.184	0.03881	0.2201:0.4657:0.1001:0.2141	.	599	P47989	XDH_HUMAN	P	599	ENSP00000368727:R599P	ENSP00000368727:R599P	R	-	2	0	XDH	31448658	0.054000	0.20591	0.555000	0.28281	0.109000	0.19521	0.158000	0.16422	0.911000	0.36747	-0.219000	0.12488	CGC		PASS	0.632	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		59	78	59	78	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32750675	32750675	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:32750675T>C	ENST00000421745.2	+	59	12034	c.11900T>C	c.(11899-11901)cTg>cCg	p.L3967P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3967					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.L3939P(1)|p.L3967P(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)					GTGTTTCACCTGTTTCACAAA	0.413																																					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.(11899-11901)CTG>CCG		baculoviral IAP repeat-containing 6							69.0	69.0	69.0					2																	32750675		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32750675T>C	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.11900T>C	2.37:g.32750675T>C	ENSP00000393596:p.Leu3967Pro						p.L3967P	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			59	12034	+	Acute lymphoblastic leukemia(172;0.155)		3967					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11900T>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.499710	0.85176	.	.	ENSG00000115760	ENST00000421745	D	0.82081	-1.57	5.61	5.61	0.85477	.	0.076458	0.53938	D	0.000053	D	0.86372	0.5917	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.88231	0.2903	10	0.87932	D	0	.	15.7961	0.78412	0.0:0.0:0.0:1.0	.	3967	Q9NR09	BIRC6_HUMAN	P	3967	ENSP00000393596:L3967P	ENSP00000393596:L3967P	L	+	2	0	BIRC6	32604179	0.998000	0.40836	0.998000	0.56505	0.992000	0.81027	7.420000	0.80191	2.139000	0.66308	0.533000	0.62120	CTG		PASS	0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		6	21	6	21	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33589321	33589321	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:33589321G>T	ENST00000404816.2	+	30	4791	c.4438G>T	c.(4438-4440)Ggc>Tgc	p.G1480C	LTBP1_ENST00000418533.2_Missense_Mutation_p.G1112C|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1481C|LTBP1_ENST00000407925.1_Missense_Mutation_p.G1154C|LTBP1_ENST00000390003.4_Missense_Mutation_p.G1155C|LTBP1_ENST00000404525.1_Missense_Mutation_p.G1101C|LTBP1_ENST00000272273.5_Missense_Mutation_p.G378C|LTBP1_ENST00000402934.1_Missense_Mutation_p.G1099C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1480	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G1481C(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTGTATTGATGGCCAGTGTGT	0.413																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(4441-4443)GGC>TGC		latent transforming growth factor beta binding							150.0	147.0	148.0					2																	33589321		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33589321G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4438G>T	2.37:g.33589321G>T	ENSP00000386043:p.Gly1480Cys					LTBP1_uc002rot.2_Missense_Mutation_p.G1155C|LTBP1_uc002rou.2_Missense_Mutation_p.G1154C|LTBP1_uc002rov.2_Missense_Mutation_p.G1101C|LTBP1_uc010ymz.1_Missense_Mutation_p.G1112C|LTBP1_uc010yna.1_Missense_Mutation_p.G1059C|LTBP1_uc010ynb.1_Missense_Mutation_p.G378C	p.G1481C	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			30	4441	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1480			EGF-like 16; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4441G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485418	0.84854	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.39	5.39	0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.97766	0.9267	H	0.97659	4.05	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99100	1.0843	9	0.87932	D	0	.	19.152	0.93493	0.0:0.0:1.0:0.0	.	378;1480;1112;1101;1154;1155;1481	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	C	1480;1481;1155;1112;1099;1101;1154;378	ENSP00000386043:G1480C;ENSP00000346467:G1481C;ENSP00000374653:G1155C;ENSP00000393057:G1112C;ENSP00000384373:G1099C;ENSP00000385359:G1101C;ENSP00000384091:G1154C;ENSP00000272273:G378C	ENSP00000272273:G378C	G	+	1	0	LTBP1	33442825	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.511000	0.84671	0.557000	0.71058	GGC		PASS	0.413	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		20	35	20	35	---	---	---	---
RASGRP3	25780	broad.mit.edu	37	2	33752399	33752399	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:33752399G>C	ENST00000403687.3	+	10	1743	c.1003G>C	c.(1003-1005)Gtt>Ctt	p.V335L	RASGRP3_ENST00000402538.3_Missense_Mutation_p.V335L|RASGRP3_ENST00000407811.1_Missense_Mutation_p.V335L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	335	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.V335L(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CCAGCTCTCCGTTACCCTGAG	0.478																																						uc002rox.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(1003-1005)GTT>CTT		RAS guanyl releasing protein 3 (calcium and							108.0	105.0	106.0					2																	33752399		1978	4159	6137	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33752399G>C	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1003G>C	2.37:g.33752399G>C	ENSP00000384192:p.Val335Leu					RASGRP3_uc010ync.1_Missense_Mutation_p.V335L|RASGRP3_uc002roy.2_Missense_Mutation_p.V335L	p.V335L	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			11	1630	+	all_hematologic(175;0.115)		335			Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1003G>C	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	8.997	0.979212	0.18812	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.28895	1.59;1.59;1.59	5.74	5.74	0.90152	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.147583	0.46758	D	0.000274	T	0.14313	0.0346	N	0.02916	-0.46	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16158	-1.0412	10	0.25106	T	0.35	-15.2831	13.5948	0.61982	0.0796:0.0:0.9204:0.0	.	335;335	D6W583;Q8IV61	.;GRP3_HUMAN	L	335	ENSP00000385886:V335L;ENSP00000384192:V335L;ENSP00000383917:V335L	ENSP00000385886:V335L	V	+	1	0	RASGRP3	33605903	0.941000	0.31946	0.410000	0.26471	0.980000	0.70556	3.198000	0.51035	2.712000	0.92718	0.650000	0.86243	GTT		PASS	0.478	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		15	11	15	11	---	---	---	---
KCNK12	56660	broad.mit.edu	37	2	47748783	47748783	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:47748783G>T	ENST00000327876.4	-	2	1163	c.556C>A	c.(556-558)Cgc>Agc	p.R186S	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	186						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(2)|p.R186S(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCCGCTGCGGCGCAGCTGG	0.701																																						uc002rwb.2																			5	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(3)|lung(1)|prostate(1)	ovary(1)	1						c.(556-558)CGC>AGC		potassium channel, subfamily K, member 12							8.0	12.0	11.0					2																	47748783		2161	4239	6400	SO:0001583	missense	56660					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr2:47748783G>T	AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.556C>A	2.37:g.47748783G>T	ENSP00000327611:p.Arg186Ser					MSH2_uc002rvz.2_Intron	p.R186S	NM_022055	NP_071338	Q9HB15	KCNKC_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	556	-		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	186			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000327876.4	37	c.556C>A	CCDS1835.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247636	0.39697	.	.	ENSG00000184261	ENST00000327876	T	0.16897	2.31	4.38	2.45	0.29901	.	0.360875	0.31648	N	0.007281	T	0.18045	0.0433	L	0.52126	1.63	0.41142	D	0.985963	P	0.34909	0.475	B	0.37144	0.242	T	0.08722	-1.0708	10	0.56958	D	0.05	.	12.079	0.53659	0.0:0.0:0.4512:0.5488	.	186	Q9HB15	KCNKC_HUMAN	S	186	ENSP00000327611:R186S	ENSP00000327611:R186S	R	-	1	0	KCNK12	47602287	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.806000	0.55583	1.038000	0.40049	0.455000	0.32223	CGC		PASS	0.701	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		3	4	3	4	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50149125	50149125	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:50149125G>T	ENST00000406316.2	-	22	5867	c.4391C>A	c.(4390-4392)tCc>tAc	p.S1464Y	NRXN1_ENST00000405472.3_Missense_Mutation_p.S1486Y|NRXN1_ENST00000404971.1_Missense_Mutation_p.S1534Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1494Y|NRXN1_ENST00000342183.5_Missense_Mutation_p.S429Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1464Y|NRXN1_ENST00000401710.1_Missense_Mutation_p.S482Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1486Y	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1464					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S1535Y(1)|p.S429Y(1)|p.S1464Y(1)|p.S1534Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTTTTGTTGGAGCTTTTCGC	0.393																																						uc010fbp.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1285-1287)TCC>TAC		neurexin 1 isoform beta precursor							164.0	147.0	153.0					2																	50149125		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149125G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4391C>A	2.37:g.50149125G>T	ENSP00000384311:p.Ser1464Tyr					NRXN1_uc002rxb.3_Missense_Mutation_p.S1163Y|NRXN1_uc010fbq.2_Missense_Mutation_p.S1534Y|NRXN1_uc002rxe.3_Missense_Mutation_p.S1464Y|NRXN1_uc010yon.1_Missense_Mutation_p.S129Y|NRXN1_uc002rxa.3_Missense_Mutation_p.S126Y	p.S429Y	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2093	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	429			Cytoplasmic (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1286C>A	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.432302|3.432302	0.62844|0.62844	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000412315|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.71103	.|0.98;2.17;0.17;0.15;-0.54;-0.43;-0.14;0.01	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|21.502100	.|0.02520	.|U	.|0.092481	T|T	0.77191|0.77191	0.4094|0.4094	L|L	0.38175|0.38175	1.15|1.15	0.44918|0.44918	D|D	0.99793|0.99793	.|B;B;D;P;P;B	.|0.60575	.|0.264;0.404;0.988;0.892;0.773;0.226	.|B;B;P;B;B;B	.|0.50049	.|0.311;0.131;0.629;0.444;0.304;0.124	T|T	0.67635|0.67635	-0.5620|-0.5620	5|10	.|0.72032	.|D	.|0.01	.|.	19.4586|19.4586	0.94906|0.94906	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|129;1534;429;1464;1483;126	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	T|Y	197|429;383;482;1534;1464;1486;1494;1535;1486;1464	.|ENSP00000341184:S429Y;ENSP00000385580:S482Y;ENSP00000385142:S1534Y;ENSP00000384311:S1464Y;ENSP00000434015:S1486Y;ENSP00000385017:S1494Y;ENSP00000385434:S1486Y;ENSP00000385681:S1464Y	.|ENSP00000341184:S429Y	P|S	-|-	1|2	0|0	NRXN1|NRXN1	50002629|50002629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.671000|7.671000	0.83941|0.83941	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	CCA|TCC		PASS	0.393	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			8	33	8	33	---	---	---	---
GPR75-ASB3	100302652	broad.mit.edu	37	2	53941600	53941600	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:53941600G>A	ENST00000263634.3	-	7	1035	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.R228W|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.R339W|ASB3_ENST00000498475.2_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.R336W|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.R228W	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.R301W(1)									TAGCCATTCCGGAGTAATATT	0.468																																						uc002rxg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(901-903)CGG>TGG		ankyrin repeat and SOCS box-containing protein 3							124.0	121.0	122.0					2																	53941600		2203	4300	6503	SO:0001583	missense	51130				intracellular signal transduction			g.chr2:53941600G>A		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.901C>T	2.37:g.53941600G>A	ENSP00000263634:p.Arg301Trp					ASB3_uc002rxh.1_Missense_Mutation_p.R228W|ASB3_uc002rxi.3_Missense_Mutation_p.R339W|ASB3_uc010yoo.1_Missense_Mutation_p.R218W	p.R301W	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		7	1036	-			301			ANK 9.			Missense_Mutation	SNP	ENST00000263634.3	37	c.901C>T	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.55|15.55	2.867063|2.867063	0.51588|0.51588	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000406053|ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	.|T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15	6.02|6.02	4.07|4.07	0.47477|0.47477	.|Ankyrin repeat-containing domain (4);	.|0.569978	.|0.19737	.|N	.|0.107218	T|T	0.67287|0.67287	0.2877|0.2877	L|L	0.60904|0.60904	1.88|1.88	.|0.27134	.|N	.|0.961829	.|D;D;D	.|0.69078	.|0.997;0.997;0.976	.|P;P;B	.|0.56788	.|0.806;0.517;0.394	T|T	0.76285|0.76285	-0.3015|-0.3015	4|9	.|0.72032	.|D	.|0.01	-3.2162|-3.2162	7.1601|7.1601	0.25659|0.25659	0.0878:0.0:0.5579:0.3543|0.0878:0.0:0.5579:0.3543	.|.	.|218;336;301	.|B4DZX6;Q2TAI4;Q9Y575	.|.;.;ASB3_HUMAN	L|W	293|301;336;228;228;339;218	.|ENSP00000263634:R301W;ENSP00000385085:R336W;ENSP00000384728:R228W;ENSP00000378206:R228W;ENSP00000313756:R339W	.|ENSP00000263634:R301W	P|R	-|-	2|1	0|2	ASB3|ASB3	53795104|53795104	0.116000|0.116000	0.22171|0.22171	0.103000|0.103000	0.21229|0.21229	0.545000|0.545000	0.35147|0.35147	2.888000|2.888000	0.48594|0.48594	1.555000|1.555000	0.49500|0.49500	0.655000|0.655000	0.94253|0.94253	CCG|CGG		PASS	0.468	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			43	55	43	55	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61522091	61522091	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:61522091C>A	ENST00000398571.2	-	32	4530	c.4454G>T	c.(4453-4455)aGt>aTt	p.S1485I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1485					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S1485I(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AACCTTGCAACTCCAGGAATT	0.294																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(4453-4455)AGT>ATT		ubiquitin specific protease 34							62.0	56.0	58.0					2																	61522091		1808	4071	5879	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61522091C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4454G>T	2.37:g.61522091C>A	ENSP00000381577:p.Ser1485Ile						p.S1485I	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		32	4476	-			1485					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.4454G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646971	0.67358	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04502	3.61	5.35	4.45	0.53987	.	0.042658	0.85682	D	0.000000	T	0.06554	0.0168	L	0.60455	1.87	0.44500	D	0.997442	P	0.40476	0.718	B	0.32864	0.154	T	0.23511	-1.0186	10	0.48119	T	0.1	.	14.7157	0.69265	0.0:0.8491:0.1509:0.0	.	1485	Q70CQ2	UBP34_HUMAN	I	1333;1333;1485	ENSP00000381577:S1485I	ENSP00000263989:S1333I	S	-	2	0	USP34	61375595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.759000	0.62227	1.213000	0.43380	0.650000	0.86243	AGT		PASS	0.294	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			6	21	6	21	---	---	---	---
GKN1	56287	broad.mit.edu	37	2	69207139	69207139	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:69207139A>T	ENST00000377938.2	+	5	515	c.452A>T	c.(451-453)aAc>aTc	p.N151I		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	151	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)		p.N151I(1)		breast(2)|large_intestine(4)|lung(5)	11						TTCGGAAAAAACATTGCAAAC	0.507																																						uc002sfc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(451-453)AAC>ATC		18 kDa antrum mucosa protein precursor							167.0	121.0	137.0					2																	69207139		2203	4300	6503	SO:0001583	missense	56287				digestion|positive regulation of cell division	extracellular region		g.chr2:69207139A>T	AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"""BRICHOS domain containing"""	23217	protein-coding gene	gene with protein product	"""BRICHOS domain containing 1"""	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.452A>T	2.37:g.69207139A>T	ENSP00000367172:p.Asn151Ile						p.N151I	NM_019617	NP_062563	Q9NS71	GKN1_HUMAN			5	515	+			151			BRICHOS.		Q8IUA9	Missense_Mutation	SNP	ENST00000377938.2	37	c.452A>T	CCDS1891.2	.	.	.	.	.	.	.	.	.	.	A	14.76	2.632876	0.47049	.	.	ENSG00000169605	ENST00000377938	T	0.79141	-1.24	5.35	2.2	0.27929	BRICHOS (2);	1.452200	0.03848	N	0.271770	T	0.66616	0.2807	N	0.22421	0.69	0.09310	N	0.999998	P	0.38677	0.642	B	0.37451	0.25	T	0.55679	-0.8103	10	0.37606	T	0.19	-0.0018	7.106	0.25364	0.644:0.2561:0.0:0.0998	.	151	Q9NS71	GKN1_HUMAN	I	151	ENSP00000367172:N151I	ENSP00000367172:N151I	N	+	2	0	GKN1	69060643	0.001000	0.12720	0.127000	0.21898	0.623000	0.37688	0.001000	0.13038	0.240000	0.21263	0.529000	0.55759	AAC		PASS	0.507	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617		21	29	21	29	---	---	---	---
ADD2	119	broad.mit.edu	37	2	70922931	70922931	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:70922931C>A	ENST00000264436.4	-	6	921	c.477G>T	c.(475-477)ttG>ttT	p.L159F	ADD2_ENST00000355733.3_Missense_Mutation_p.L159F|ADD2_ENST00000413157.2_Missense_Mutation_p.L159F|ADD2_ENST00000430656.1_Missense_Mutation_p.L175F|ADD2_ENST00000407644.2_Missense_Mutation_p.L159F	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	159					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.L159F(2)|p.L175F(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCTGACTCTCAACTGGAGGA	0.527																																						uc002sgz.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|pancreas(1)	3						c.(475-477)TTG>TTT		adducin 2 isoform a							87.0	70.0	76.0					2																	70922931		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70922931C>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.477G>T	2.37:g.70922931C>A	ENSP00000264436:p.Leu159Phe					ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.L159F|ADD2_uc002sha.2_Missense_Mutation_p.L159F|ADD2_uc002sgx.2_Missense_Mutation_p.L159F|ADD2_uc010fdt.1_Missense_Mutation_p.L159F|ADD2_uc002shc.1_Missense_Mutation_p.L159F|ADD2_uc002shd.1_Missense_Mutation_p.L159F|ADD2_uc010fdu.1_Missense_Mutation_p.L175F	p.L159F	NM_001617	NP_001608	P35612	ADDB_HUMAN			6	942	-			159					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.477G>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226085	0.58668	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.13	5.13	0.70059	Class II aldolase/adducin, N-terminal (3);	0.254426	0.34676	N	0.003777	T	0.45796	0.1360	M	0.76938	2.355	0.37702	D	0.924245	P;B;D;P;B;P	0.67145	0.844;0.123;0.996;0.544;0.149;0.943	P;B;P;P;B;P	0.61658	0.616;0.096;0.892;0.493;0.155;0.545	T	0.54275	-0.8318	10	0.72032	D	0.01	-6.5426	9.4849	0.38924	0.0:0.9064:0.0:0.0936	.	175;159;159;159;159;159	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	F	159;159;159;159;159;159;159;159;175;159	ENSP00000264436:L159F;ENSP00000384677:L159F;ENSP00000347972:L159F;ENSP00000430243:L159F;ENSP00000388072:L159F;ENSP00000398112:L175F;ENSP00000412357:L159F	ENSP00000264436:L159F	L	-	3	2	ADD2	70776439	0.986000	0.35501	1.000000	0.80357	0.926000	0.56050	0.562000	0.23531	2.661000	0.90470	0.655000	0.94253	TTG		PASS	0.527	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		6	10	6	10	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79255037	79255037	+	Nonsense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:79255037T>A	ENST00000272324.5	+	5	622	c.438T>A	c.(436-438)tgT>tgA	p.C146*	REG3G_ENST00000393897.2_Nonsense_Mutation_p.C146*|REG3G_ENST00000409471.1_Nonsense_Mutation_p.C100*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	146	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 region (GO:0005576)	carbohydrate binding (GO:0030246)	p.C146*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGCCACTGTGGGAGCCTGT	0.493																																						uc002snw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(436-438)TGT>TGA		regenerating islet-derived 3 gamma precursor							107.0	109.0	109.0					2																	79255037		2203	4300	6503	SO:0001587	stop_gained	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79255037T>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.438T>A	2.37:g.79255037T>A	ENSP00000272324:p.Cys146*					REG3G_uc002snx.2_Nonsense_Mutation_p.C146*|REG3G_uc010ffu.2_Nonsense_Mutation_p.C100*	p.C146*	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			5	523	+			146			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Nonsense_Mutation	SNP	ENST00000272324.5	37	c.438T>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	T	35	5.464773	0.96257	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	.	.	.	4.73	2.33	0.28932	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4621	0.21962	0.0:0.1942:0.0:0.8058	.	.	.	.	X	146;146;100	.	ENSP00000272324:C146X	C	+	3	2	REG3G	79108545	1.000000	0.71417	0.745000	0.31077	0.726000	0.41606	1.870000	0.39529	0.404000	0.25506	0.528000	0.53228	TGT		PASS	0.493	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		25	35	25	35	---	---	---	---
THNSL2	55258	broad.mit.edu	37	2	88474199	88474199	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:88474199G>T	ENST00000324166.5	+	2	1956	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	THNSL2_ENST00000449349.1_Missense_Mutation_p.V57L|THNSL2_ENST00000358591.2_Missense_Mutation_p.V89L|THNSL2_ENST00000377254.3_Missense_Mutation_p.V89L|THNSL2_ENST00000343544.4_Missense_Mutation_p.V89L|THNSL2_ENST00000402102.1_Missense_Mutation_p.V89L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	89					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.V89L(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TCACAGAGAAGTGGTCCATCT	0.537																																						uc002ssz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(265-267)GTG>TTG		threonine synthase-like 2							199.0	155.0	170.0					2																	88474199		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88474199G>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.265G>T	2.37:g.88474199G>T	ENSP00000327323:p.Val89Leu					THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.V89L|THNSL2_uc002ssx.3_Missense_Mutation_p.V57L|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.V89L|THNSL2_uc010fhe.2_5'UTR	p.V89L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			3	418	+			89					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.265G>T	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772157	0.90108	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000419759;ENST00000449349;ENST00000343544;ENST00000324166	T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74	5.63	5.63	0.86233	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.191333	0.45126	D	0.000395	T	0.27832	0.0685	M	0.73962	2.25	0.40295	D	0.978542	P;D;D	0.61697	0.917;0.957;0.99	P;P;P	0.52646	0.562;0.705;0.693	T	0.02294	-1.1181	10	0.72032	D	0.01	.	12.0476	0.53489	0.0783:0.0:0.9217:0.0	.	89;57;89	Q86YJ6;C9JU10;Q86YJ6-2	THNS2_HUMAN;.;.	L	89;89;89;89;57;89;89	ENSP00000351402:V89L;ENSP00000366464:V89L;ENSP00000384475:V89L;ENSP00000391300:V89L;ENSP00000407553:V57L;ENSP00000339563:V89L;ENSP00000327323:V89L	ENSP00000327323:V89L	V	+	1	0	THNSL2	88255314	1.000000	0.71417	0.954000	0.39281	0.859000	0.49053	4.198000	0.58419	2.659000	0.90383	0.561000	0.74099	GTG		PASS	0.537	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		14	26	14	26	---	---	---	---
IGKV1-17	28937	broad.mit.edu	37	2	89417257	89417257	+	RNA	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:89417257G>C	ENST00000490686.1	-	0	78									immunoglobulin kappa variable 1-17																		TCCTTACCTGGGAACCAGAGC	0.512																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							145.0	149.0	147.0					2																	89417257		1888	4118	6006			0							g.chr2:89417257G>C	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89417257G>C						uc002stl.2_Intron								41		-									RNA	SNP	ENST00000490686.1	37	c.4470C>G																																																																																					PASS	0.512	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		6	120	6	120	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98809499	98809499	+	Splice_Site	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:98809499G>T	ENST00000477737.1	+	11	1809	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	VWA3B_ENST00000451075.2_Splice_Site_p.Q385H|VWA3B_ENST00000435344.1_Splice_Site_p.Q535H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	535	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.Q535H(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGTTCATACAGGTTAGATGGA	0.413																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(1603-1605)CAG>CAT		von Willebrand factor A domain containing 3B							171.0	158.0	162.0					2																	98809499		1957	4154	6111	SO:0001630	splice_region_variant	200403							g.chr2:98809499G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1605+1G>T	2.37:g.98809499G>T						VWA3B_uc010yvh.1_Missense_Mutation_p.Q385H|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.Q54H|VWA3B_uc002sym.2_Missense_Mutation_p.Q535H|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.Q192H|VWA3B_uc002syp.1_Translation_Start_Site	p.Q535H	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			11	1869	+			535			VWFA.		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1605G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798499	0.70567	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.78481	-1.18;3.16;-1.18	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.185113	0.37809	N	0.001930	D	0.87233	0.6126	M	0.77103	2.36	0.32114	N	0.588958	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	D;D;D;P	0.79108	0.986;0.992;0.965;0.847	D	0.89314	0.3635	10	0.87932	D	0	.	12.8276	0.57728	0.0781:0.0:0.9219:0.0	.	385;535;535;535	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	H	535;535;385	ENSP00000401959:Q535H;ENSP00000417955:Q535H;ENSP00000389463:Q385H	ENSP00000388158:Q535H	Q	+	3	2	VWA3B	98175931	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.667000	0.61561	2.742000	0.94016	0.650000	0.86243	CAG		PASS	0.413	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	Missense_Mutation	47	43	47	43	---	---	---	---
INPP4A	3631	broad.mit.edu	37	2	99170832	99170832	+	Silent	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:99170832T>G	ENST00000523221.1	+	14	1461	c.1461T>G	c.(1459-1461)tcT>tcG	p.S487S	INPP4A_ENST00000409540.3_Silent_p.S487S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000074304.5_Silent_p.S487S|INPP4A_ENST00000409016.4_Silent_p.S487S|INPP4A_ENST00000545415.1_Silent_p.S487S|INPP4A_ENST00000409851.3_Silent_p.S482S			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	487					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.S487S(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCAAGGCCTCTCCCACTTCGA	0.602																																						uc002syy.2																			2	Substitution - coding silent(2)		lung(2)	kidney(1)	1						c.(1459-1461)TCT>TCG		inositol polyphosphate-4-phosphatase, type 1							48.0	53.0	51.0					2																	99170832		2183	4278	6461	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99170832T>G	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1461T>G	2.37:g.99170832T>G						INPP4A_uc010yvj.1_Silent_p.S487S|INPP4A_uc010yvk.1_Silent_p.S487S|INPP4A_uc002syx.2_Silent_p.S482S|INPP4A_uc010fik.2_Intron	p.S487S	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			16	1854	+			487					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.1461T>G	CCDS46369.1																																																																																				PASS	0.602	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		3	7	3	7	---	---	---	---
PDCL3	79031	broad.mit.edu	37	2	101188050	101188050	+	Splice_Site	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:101188050A>G	ENST00000264254.6	+	5	746		c.e5-1			NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)	p.?(1)		endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGTGTTTTATAGAATTCCCCT	0.388																																						uc002tao.2																			1	Unknown(1)		lung(1)		0						c.e5-2		phosducin-like 3							129.0	129.0	129.0					2																	101188050		2203	4300	6503	SO:0001630	splice_region_variant	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101188050A>G	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.369-1A>G	2.37:g.101188050A>G							p.G123_splice	NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN			5	481	+								B2RA00|Q53S68	Splice_Site	SNP	ENST00000264254.6	37	c.369_splice	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	a	17.13	3.311619	0.60414	.	.	ENSG00000115539	ENST00000264254;ENST00000416255;ENST00000450127	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8181	0.78621	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDCL3	100554482	1.000000	0.71417	0.985000	0.45067	0.633000	0.38033	8.950000	0.93019	2.150000	0.67090	0.514000	0.50259	.		PASS	0.388	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065	Intron	17	32	17	32	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102475492	102475492	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:102475492G>A	ENST00000347699.4	+	14	1430	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	MAP4K4_ENST00000350198.4_Missense_Mutation_p.R477Q|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R457Q|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R330Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R477Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R477Q|MAP4K4_ENST00000413150.2_Missense_Mutation_p.R477Q|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R330Q	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	477					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R477Q(2)|p.R477P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAGGAGCAGCGGCACTTGGAA	0.507																																						uc002tbg.2																			3	Substitution - Missense(3)		lung(3)	stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1429-1431)CGG>CAG		mitogen-activated protein kinase kinase kinase							99.0	104.0	102.0					2																	102475492		1979	4172	6151	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102475492G>A	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1430G>A	2.37:g.102475492G>A	ENSP00000314363:p.Arg477Gln					MAP4K4_uc002tbc.2_Missense_Mutation_p.R477Q|MAP4K4_uc002tbd.2_Missense_Mutation_p.R477Q|MAP4K4_uc002tbe.2_Missense_Mutation_p.R477Q|MAP4K4_uc002tbf.2_Missense_Mutation_p.R477Q|MAP4K4_uc010yvy.1_Missense_Mutation_p.R477Q|MAP4K4_uc002tbh.2_Missense_Mutation_p.R477Q|MAP4K4_uc002tbi.2_Missense_Mutation_p.R330Q|MAP4K4_uc010yvz.1_Missense_Mutation_p.R457Q|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Missense_Mutation_p.R373Q	p.R477Q	NM_145687	NP_663720	O95819	M4K4_HUMAN			14	1485	+			477					O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.1430G>A	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562832	0.65538	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878;ENST00000418101	T;T;T;T;T;T;T;T;T;T	0.72615	2.34;0.64;0.93;0.64;0.93;0.64;0.64;2.34;-0.67;0.64	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.81264	0.4786	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.69078	0.994;0.994;0.994;0.994;0.997;0.994;0.994;0.997;0.997;0.997	D;D;D;D;D;D;D;D;D;D	0.69479	0.921;0.921;0.921;0.921;0.964;0.921;0.921;0.964;0.964;0.964	T	0.76621	-0.2892	10	0.30078	T	0.28	.	20.127	0.97984	0.0:0.0:1.0:0.0	.	457;477;457;330;477;477;477;477;477;477	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	Q	477;477;477;330;477;330;477;439;457;66	ENSP00000392830:R477Q;ENSP00000313644:R477Q;ENSP00000281111:R477Q;ENSP00000303600:R330Q;ENSP00000389752:R477Q;ENSP00000387370:R330Q;ENSP00000314363:R477Q;ENSP00000409720:R439Q;ENSP00000343658:R457Q;ENSP00000414766:R66Q	ENSP00000303600:R330Q	R	+	2	0	MAP4K4	101841924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.775000	0.95449	0.585000	0.79938	CGG		PASS	0.507	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		11	41	11	41	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103095403	103095403	+	Nonsense_Mutation	SNP	C	C	A	rs373107542		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:103095403C>A	ENST00000295269.4	+	2	819	c.362C>A	c.(361-363)tCg>tAg	p.S121*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	121					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.S121*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GACCACAAATCGCCTCCGGTC	0.612																																						uc002tbz.3																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(361-363)TCG>TAG		solute carrier family 9 (sodium/hydrogen		C	stop/SER	1,4405	2.1+/-5.4	0,1,2202	69.0	64.0	65.0		362	5.7	0.2	2		65	0,8600		0,0,4300	no	stop-gained	SLC9A4	NM_001011552.3		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		121/799	103095403	1,13005	2203	4300	6503	SO:0001587	stop_gained	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095403C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.362C>A	2.37:g.103095403C>A	ENSP00000295269:p.Ser121*						p.S121*	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			2	819	+			121			Extracellular (Potential).		Q69YK0	Nonsense_Mutation	SNP	ENST00000295269.4	37	c.362C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	42	9.703825	0.99242	2.27E-4	0.0	ENSG00000180251	ENST00000295269	.	.	.	5.7	5.7	0.88788	.	0.059902	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8351	0.96655	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000295269:S121X	S	+	2	0	SLC9A4	102461835	1.000000	0.71417	0.204000	0.23530	0.964000	0.63967	4.881000	0.63114	2.687000	0.91594	0.655000	0.94253	TCG		PASS	0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		33	19	33	19	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125530578	125530578	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:125530578C>A	ENST00000431078.1	+	17	3097	c.2733C>A	c.(2731-2733)aaC>aaA	p.N911K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	911	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.N911K(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCAGCTGAACAGCCAGTTGT	0.517																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2731-2733)AAC>AAA		contactin associated protein-like 5 precursor							105.0	99.0	101.0					2																	125530578		1914	4130	6044	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530578C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2733C>A	2.37:g.125530578C>A	ENSP00000399013:p.Asn911Lys					CNTNAP5_uc010flu.2_Missense_Mutation_p.N912K	p.N911K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	3097	+			911			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2733C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	c	19.37	3.813808	0.70912	.	.	ENSG00000155052	ENST00000431078	T	0.37235	1.21	5.63	1.33	0.21861	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.247552	0.27245	N	0.020252	T	0.28333	0.0700	M	0.66297	2.02	0.47584	D	0.999466	P	0.39717	0.684	B	0.35182	0.197	T	0.12656	-1.0539	10	0.11182	T	0.66	.	8.8439	0.35159	0.0:0.649:0.0:0.351	.	911	Q8WYK1	CNTP5_HUMAN	K	911	ENSP00000399013:N911K	ENSP00000399013:N911K	N	+	3	2	CNTNAP5	125247048	1.000000	0.71417	0.956000	0.39512	0.990000	0.78478	0.945000	0.29056	0.190000	0.20209	0.645000	0.84053	AAC		PASS	0.517	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			32	31	32	31	---	---	---	---
GPR17	2840	broad.mit.edu	37	2	128409084	128409084	+	Missense_Mutation	SNP	G	G	A	rs370252535		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:128409084G>A	ENST00000272644.3	+	3	933	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.V287M|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409254.1_5'Flank|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.V287M	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	287					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.V287M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CTCCGTCTACGTGCTGCACTA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		19936	0.0		0.0	False		,,,				2504	0.001					uc010yzn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)GTG>ATG		G protein-coupled receptor 17 isoform a		G	,,,MET/VAL,MET/VAL,MET/VAL,MET/VAL,	0,4406		0,0,2203	103.0	87.0	92.0		,,,859,775,775,859,	3.5	1.0	2		92	1,8599		0,1,4299	no	intron,intron,intron,missense,missense,missense,missense,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,21,21,21,21,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	,,,287/368,259/340,259/340,287/368,	128409084	1,13005	2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128409084G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.859G>A	2.37:g.128409084G>A	ENSP00000272644:p.Val287Met					LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.V287M|GPR17_uc010yzo.1_Missense_Mutation_p.V259M|GPR17_uc002tpd.2_Missense_Mutation_p.V259M	p.V287M	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1470	+	Colorectal(110;0.1)	Ovarian(717;0.15)	287			Extracellular (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.859G>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	.	13.34	2.207512	0.39003	0.0	1.16E-4	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.38401	1.14;1.14;1.14	5.34	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.197120	0.44285	D	0.000461	T	0.22399	0.0540	N	0.25031	0.7	0.33220	D	0.554588	P	0.52061	0.95	B	0.42087	0.375	T	0.26052	-1.0114	9	.	.	.	.	7.7194	0.28723	0.1033:0.4768:0.4199:0.0	.	287	Q13304	GPR17_HUMAN	M	287	ENSP00000442982:V287M;ENSP00000272644:V287M;ENSP00000376741:V287M	.	V	+	1	0	GPR17	128125554	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	3.549000	0.53681	0.598000	0.29829	0.561000	0.74099	GTG		PASS	0.642	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			25	20	25	20	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128865517	128865517	+	Missense_Mutation	SNP	G	G	T	rs374148816		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:128865517G>T	ENST00000259253.6	+	4	330	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	UGGT1_ENST00000375990.3_Missense_Mutation_p.D71Y	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	95					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.D95Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GACAGGTACCGATTATTCCTA	0.378																																						uc002tps.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)GAT>TAT		UDP-glucose ceramide glucosyltransferase-like 1							165.0	158.0	160.0					2																	128865517		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128865517G>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.283G>T	2.37:g.128865517G>T	ENSP00000259253:p.Asp95Tyr					UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Missense_Mutation_p.D71Y	p.D95Y	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			4	461	+			95					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.283G>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802792	0.70682	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.09817	2.94;2.94	5.21	4.33	0.51752	.	0.049303	0.85682	D	0.000000	T	0.31949	0.0813	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.12218	-1.0556	10	0.72032	D	0.01	.	13.1932	0.59723	0.0777:0.0:0.9223:0.0	.	95	Q9NYU2	UGGG1_HUMAN	Y	71;95	ENSP00000365158:D71Y;ENSP00000259253:D95Y	ENSP00000259253:D95Y	D	+	1	0	UGGT1	128581987	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.439000	0.59968	1.200000	0.43188	0.655000	0.94253	GAT		PASS	0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		55	65	55	65	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130832536	130832536	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:130832536G>T	ENST00000409914.2	-	17	2908	c.2509C>A	c.(2509-2511)Cag>Aag	p.Q837K	POTEF_ENST00000357462.5_Missense_Mutation_p.Q837K	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	837	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Q837K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCACAGCCTGGATGGCCACG	0.587																																						uc010fmh.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2509-2511)CAG>AAG		prostate, ovary, testis expressed protein on							108.0	130.0	122.0					2																	130832536		2197	4287	6484	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832536G>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2509C>A	2.37:g.130832536G>T	ENSP00000386786:p.Gln837Lys						p.Q837K	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2909	-			837			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2509C>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856318	0.51376	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.97505	-4.41;-4.41	.	.	.	.	.	.	.	.	D	0.98416	0.9473	H	0.99507	4.6	0.80722	D	1	B	0.32573	0.376	P	0.45558	0.485	D	0.97098	0.9795	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	837	A5A3E0	POTEF_HUMAN	K	837	ENSP00000350052:Q837K;ENSP00000386786:Q837K	ENSP00000350052:Q837K	Q	-	1	0	POTEF	130549006	1.000000	0.71417	0.203000	0.23512	0.205000	0.24178	4.790000	0.62453	0.119000	0.18210	0.121000	0.15741	CAG		PASS	0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		38	103	38	103	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130877781	130877781	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:130877781C>A	ENST00000409914.2	-	3	707	c.308G>T	c.(307-309)tGc>tTc	p.C103F	POTEF_ENST00000360967.5_Missense_Mutation_p.C103F|POTEF_ENST00000357462.5_Missense_Mutation_p.C103F|POTEF_ENST00000361163.4_Missense_Mutation_p.C103F	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	103					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.C103F(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GAAGCAGTGGCAGCACCACTT	0.612																																						uc010fmh.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(307-309)TGC>TTC		prostate, ovary, testis expressed protein on							78.0	102.0	94.0					2																	130877781		2203	4297	6500	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877781C>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.308G>T	2.37:g.130877781C>A	ENSP00000386786:p.Cys103Phe						p.C103F	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			3	708	-			103					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.308G>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	2.559	-0.302307	0.05495	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77358	-1.09;-1.09;1.72;1.75	0.562	-1.12	0.09808	.	.	.	.	.	T	0.65069	0.2656	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.51498	-0.8698	8	0.87932	D	0	.	.	.	.	.	103	A5A3E0	POTEF_HUMAN	F	103	ENSP00000350052:C103F;ENSP00000386786:C103F;ENSP00000354232:C103F;ENSP00000355012:C103F	ENSP00000350052:C103F	C	-	2	0	POTEF	130594251	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-1.560000	0.02160	-1.331000	0.02252	0.074000	0.15403	TGC		PASS	0.612	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		11	153	11	153	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131130736	131130736	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:131130736A>G	ENST00000175756.5	+	15	1423	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	PTPN18_ENST00000347849.3_Missense_Mutation_p.N334S	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	441					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.N441S(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CCAGGTTTCAACCTGCGCATT	0.622																																						uc002trc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(1321-1323)AAC>AGC		protein tyrosine phosphatase, non-receptor type							41.0	38.0	39.0					2																	131130736		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131130736A>G	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1322A>G	2.37:g.131130736A>G	ENSP00000175756:p.Asn441Ser					PTPN18_uc002trd.2_Missense_Mutation_p.N420S|PTPN18_uc002trb.2_Missense_Mutation_p.N334S|PTPN18_uc002tre.2_Missense_Mutation_p.N92S	p.N441S	NM_014369	NP_055184	Q99952	PTN18_HUMAN			15	1423	+	Colorectal(110;0.1)		441					B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.1322A>G	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533394	0.64972	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	T;T	0.14516	3.34;2.5	5.29	4.14	0.48551	.	0.000000	0.41938	D	0.000793	T	0.28366	0.0701	L	0.59436	1.845	0.39029	D	0.959909	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.80764	0.978;0.994;0.994	T	0.03306	-1.1050	10	0.36615	T	0.2	.	8.0857	0.30771	0.9073:0.0:0.0927:0.0	.	420;441;334	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	S	441;334;420	ENSP00000175756:N441S;ENSP00000310092:N334S	ENSP00000175756:N441S	N	+	2	0	PTPN18	130847206	0.998000	0.40836	0.990000	0.47175	0.535000	0.34838	4.415000	0.59809	0.960000	0.38005	-0.250000	0.11733	AAC		PASS	0.622	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			5	9	5	9	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520610	131520610	+	Missense_Mutation	SNP	G	G	A	rs368379439		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:131520610G>A	ENST00000423981.1	+	2	1075	c.965G>A	c.(964-966)cGt>cAt	p.R322H	AMER3_ENST00000321420.4_Missense_Mutation_p.R322H	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	322					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R322H(1)									CAGCAGCAGCGTGCCCTCCTA	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17383	0.0		0.0	False		,,,				2504	0.0					uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(964-966)CGT>CAT		hypothetical protein LOC205147		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	36.0	42.0	40.0		965,965,965,965	-2.9	0.0	2		40	0,8598		0,0,4299	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	29,29,29,29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	322/862,322/862,322/862,322/862	131520610	1,13003	2203	4299	6502	SO:0001583	missense	205147							g.chr2:131520610G>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.965G>A	2.37:g.131520610G>A	ENSP00000392700:p.Arg322His					FAM123C_uc010fmv.2_Missense_Mutation_p.R322H|FAM123C_uc010fms.1_Missense_Mutation_p.R322H|FAM123C_uc010fmt.1_Missense_Mutation_p.R322H|FAM123C_uc010fmu.1_Missense_Mutation_p.R322H	p.R322H	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1155	+	Colorectal(110;0.1)		322					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.965G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	7.455	0.643460	0.14451	2.27E-4	0.0	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.18502	2.21;2.21	5.21	-2.86	0.05717	.	0.841724	0.09890	N	0.742460	T	0.10380	0.0254	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.30937	-0.9961	10	0.44086	T	0.13	.	6.8424	0.23971	0.5498:0.0:0.331:0.1192	.	322	Q8N944	F123C_HUMAN	H	322	ENSP00000314914:R322H;ENSP00000392700:R322H	ENSP00000314914:R322H	R	+	2	0	FAM123C	131237080	0.000000	0.05858	0.005000	0.12908	0.317000	0.28152	0.119000	0.15626	-0.768000	0.04626	0.561000	0.74099	CGT		PASS	0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		21	19	21	19	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976283	131976283	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:131976283G>T	ENST00000356920.5	+	1	402	c.308G>T	c.(307-309)tGc>tTc	p.C103F	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.C103F|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	103					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.C103F(2)									AAGTGGTGCTGCCACTGCTTC	0.622																																						uc002tsn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(307-309)TGC>TTC		protein expressed in prostate, ovary, testis,							72.0	67.0	68.0					2																	131976283		2203	4299	6502	SO:0001583	missense	445582						ATP binding	g.chr2:131976283G>T	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.308G>T	2.37:g.131976283G>T	ENSP00000439189:p.Cys103Phe					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.C103F	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			1	360	+			103					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.308G>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	4.020	0.001079	0.07819	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.77098	-1.07;1.59	0.561	-1.12	0.09808	.	.	.	.	.	T	0.57272	0.2042	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.39292	-0.9621	8	0.87932	D	0	.	.	.	.	.	103	Q6S8J3	POTEE_HUMAN	F	103	ENSP00000439189:C103F;ENSP00000443049:C103F	ENSP00000439189:C103F	C	+	2	0	AC131180.1	131692753	0.015000	0.18098	0.001000	0.08648	0.102000	0.19082	0.369000	0.20416	-1.346000	0.02211	0.064000	0.15345	TGC		PASS	0.622	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		12	49	12	49	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021537	132021537	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:132021537C>A	ENST00000356920.5	+	15	2603	c.2509C>A	c.(2509-2511)Cag>Aag	p.Q837K	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	837	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.Q837K(1)									CGTGGCCATCCAGGCCGTGCC	0.607																																						uc002tsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2509-2511)CAG>AAG		protein expressed in prostate, ovary, testis,							146.0	148.0	147.0					2																	132021537		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:132021537C>A	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.2509C>A	2.37:g.132021537C>A	ENSP00000439189:p.Gln837Lys					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.Q437K|POTEE_uc002tsl.2_Missense_Mutation_p.Q419K|POTEE_uc010fmy.1_Missense_Mutation_p.Q301K	p.Q837K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2561	+			837			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2509C>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.996750	0.35226	.	.	ENSG00000188219	ENST00000356920	D	0.97505	-4.41	.	.	.	.	.	.	.	.	D	0.97949	0.9325	H	0.99516	4.605	0.80722	D	1	P	0.50156	0.932	P	0.45558	0.485	D	0.95672	0.8724	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	837	Q6S8J3	POTEE_HUMAN	K	837	ENSP00000439189:Q837K	ENSP00000439189:Q837K	Q	+	1	0	AC131180.1	131738007	1.000000	0.71417	0.118000	0.21660	0.119000	0.20118	5.240000	0.65378	0.119000	0.18210	0.121000	0.15741	CAG		PASS	0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		7	199	7	199	---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136626375	136626375	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:136626375C>A	ENST00000264156.2	-	4	481	c.421G>T	c.(421-423)Gtg>Ttg	p.V141L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	141					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.V141L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GTCCGCACCACCTGCCCACTG	0.468																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GTG>TTG		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						116.0	108.0	111.0					2																	136626375		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136626375C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.421G>T	2.37:g.136626375C>A	ENSP00000264156:p.Val141Leu						p.V141L	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	4	497	-			141					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.421G>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	36	5.689780	0.96784	.	.	ENSG00000076003	ENST00000264156	T	0.13901	2.55	5.63	5.63	0.86233	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	H	0.95780	3.72	0.80722	D	1	D	0.63046	0.992	P	0.56563	0.801	T	0.64462	-0.6402	10	0.87932	D	0	-14.3163	19.6772	0.95941	0.0:1.0:0.0:0.0	.	141	Q14566	MCM6_HUMAN	L	141	ENSP00000264156:V141L	ENSP00000264156:V141L	V	-	1	0	MCM6	136342845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.653000	0.90120	0.557000	0.71058	GTG		PASS	0.468	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		61	36	61	36	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138320815	138320815	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:138320815A>T	ENST00000409968.1	+	16	3341	c.3163A>T	c.(3163-3165)Agt>Tgt	p.S1055C	THSD7B_ENST00000272643.3_Missense_Mutation_p.S1058C|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S1027C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1057	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.S1058C(1)|p.S1027C(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCCATGTTACAGTGAGTGCAA	0.413																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3076-3078)AGT>TGT		thrombospondin, type I, domain containing 7B							116.0	110.0	112.0					2																	138320815		1943	4142	6085	SO:0001583	missense	80731							g.chr2:138320815A>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3163A>T	2.37:g.138320815A>T	ENSP00000387145:p.Ser1055Cys					THSD7B_uc010zbj.1_Intron	p.S1026C	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	15	3076	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3076A>T		.	.	.	.	.	.	.	.	.	.	A	18.38	3.610897	0.66558	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61158	0.13;0.13;0.13	5.14	3.98	0.46160	.	0.226062	0.52532	D	0.000070	T	0.75925	0.3916	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.79443	-0.1801	10	0.56958	D	0.05	.	10.5933	0.45323	0.9241:0.0:0.0759:0.0	.	1027	C9JKN6	.	C	1055;1058;1027	ENSP00000387145:S1055C;ENSP00000272643:S1058C;ENSP00000413841:S1027C	ENSP00000272643:S1058C	S	+	1	0	THSD7B	138037285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.798000	0.75155	2.073000	0.62155	0.477000	0.44152	AGT		PASS	0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		17	13	17	13	---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139310249	139310249	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:139310249G>T	ENST00000280098.4	+	5	857	c.478G>T	c.(478-480)Gag>Tag	p.E160*		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	160	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.E160*(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATTATTTTGTGAGGTGGGTAC	0.328																																						uc002tvh.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|breast(1)	3						c.(478-480)GAG>TAG		speckle-type POZ protein-like							85.0	89.0	88.0					2																	139310249		2202	4300	6502	SO:0001587	stop_gained	339745					nucleus		g.chr2:139310249G>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.478G>T	2.37:g.139310249G>T	ENSP00000280098:p.Glu160*						p.E160*	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	5	878	+			160			MATH.			Nonsense_Mutation	SNP	ENST00000280098.4	37	c.478G>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190321	0.94923	.	.	ENSG00000144228	ENST00000280098	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-1.2864	19.3737	0.94500	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000280098:E160X	E	+	1	0	SPOPL	139026719	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.641000	0.89580	0.650000	0.86243	GAG		PASS	0.328	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			25	32	25	32	---	---	---	---
NXPH2	11249	broad.mit.edu	37	2	139429108	139429108	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:139429108A>T	ENST00000272641.3	-	2	285	c.179T>A	c.(178-180)gTt>gAt	p.V60D		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	60	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.V60D(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AGACTGTTTAACAAACAGGCG	0.577																																						uc002tvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(178-180)GTT>GAT		neurexophilin 2 precursor							117.0	117.0	117.0					2																	139429108		1952	4139	6091	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429108A>T	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.179T>A	2.37:g.139429108A>T	ENSP00000272641:p.Val60Asp						p.V60D	NM_007226	NP_009157	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	179	-			60			II.		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.179T>A	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368065	0.61513	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	6.17	0.99709	.	0.057777	0.64402	D	0.000002	T	0.54822	0.1882	L	0.36672	1.1	0.80722	D	1	P	0.37914	0.611	B	0.42798	0.398	T	0.50541	-0.8816	8	.	.	.	-9.1522	16.8222	0.85835	1.0:0.0:0.0:0.0	.	60	O95156	NXPH2_HUMAN	D	60	.	.	V	-	2	0	NXPH2	139145578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.174000	0.77620	2.371000	0.80710	0.533000	0.62120	GTT		PASS	0.577	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			54	50	54	50	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141110623	141110623	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:141110623A>G	ENST00000389484.3	-	76	12520	c.11549T>C	c.(11548-11550)gTg>gCg	p.V3850A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3850	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V3850A(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)		TGTGCCAAACACCAAACATTC	0.353										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.(11548-11550)GTG>GCG		low density lipoprotein-related protein 1B							132.0	131.0	131.0					2																	141110623		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141110623A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11549T>C	2.37:g.141110623A>G	ENSP00000374135:p.Val3850Ala	TSP Lung(27;0.18)					p.V3850A	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)	76	12521	-		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)	3850			Extracellular (Potential).|EGF-like 9.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11549T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.60|10.60	1.395136|1.395136	0.25205|0.25205	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|T	.|0.29655	.|1.56	5.49|5.49	4.33|4.33	0.51752|0.51752	.|EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|0.583249	.|0.16422	.|N	.|0.215138	T|T	0.15739|0.15739	0.0379|0.0379	N|N	0.11106|0.11106	0.095|0.095	0.22424|0.22424	N|N	0.999117|0.999117	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.23048|0.23048	-1.0199|-1.0199	5|10	.|0.11485	.|T	.|0.65	.|.	11.4061|11.4061	0.49898|0.49898	0.9285:0.0:0.0715:0.0|0.9285:0.0:0.0715:0.0	.|.	.|3850	.|Q9NZR2	.|LRP1B_HUMAN	R|A	82|3850;3788	.|ENSP00000374135:V3850A	.|ENSP00000374135:V3850A	C|V	-|-	1|2	0|0	LRP1B|LRP1B	140827093|140827093	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.995000|0.995000	0.86356|0.86356	4.830000|4.830000	0.62745|0.62745	1.006000|1.006000	0.39211|0.39211	0.482000|0.482000	0.46254|0.46254	TGT|GTG		PASS	0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		38	28	38	28	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141243075	141243075	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:141243075C>A	ENST00000389484.3	-	59	10233	c.9262G>T	c.(9262-9264)Gtc>Ttc	p.V3088F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3088					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.V3088F(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)		GCATTGGGGACCGCTGTGTTA	0.373										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.(9262-9264)GTC>TTC		low density lipoprotein-related protein 1B							107.0	100.0	102.0					2																	141243075		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141243075C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9262G>T	2.37:g.141243075C>A	ENSP00000374135:p.Val3088Phe	TSP Lung(27;0.18)					p.V3088F	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)	59	10234	-		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)	3088			Extracellular (Potential).|LDL-receptor class B 28.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9262G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199918	0.79015	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96104	-3.91	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000002	D	0.96405	0.8827	M	0.71036	2.16	0.51233	D	0.99991	D	0.58268	0.982	P	0.55055	0.767	D	0.96083	0.9055	10	0.52906	T	0.07	.	15.1232	0.72460	0.0:0.8589:0.1411:0.0	.	3088	Q9NZR2	LRP1B_HUMAN	F	3088;3026	ENSP00000374135:V3088F	ENSP00000374135:V3088F	V	-	1	0	LRP1B	140959545	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	4.658000	0.61497	2.693000	0.91896	0.650000	0.86243	GTC		PASS	0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	17	20	17	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157292	145157292	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:145157292C>T	ENST00000558170.2	-	8	2646	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	ZEB2_ENST00000303660.4_Missense_Mutation_p.G488S|ZEB2_ENST00000539609.3_Missense_Mutation_p.G464S|ZEB2_ENST00000409487.3_Missense_Mutation_p.G488S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	488					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.G488S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATGTGATAACCTTTCAACTTT	0.413																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1462-1464)GGT>AGT		zinc finger homeobox 1b							85.0	89.0	88.0					2																	145157292		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157292C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1462G>A	2.37:g.145157292C>T	ENSP00000454157:p.Gly488Ser					ZEB2_uc002tvv.2_Missense_Mutation_p.G482S|ZEB2_uc010zbm.1_Missense_Mutation_p.G459S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.G517S	p.G488S	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1942	-			488					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1462G>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276472	0.23307	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.74	5.74	0.90152	.	0.092956	0.85682	D	0.000000	T	0.71492	0.3346	L	0.38175	1.15	0.43947	D	0.996618	B;B;B;B	0.21225	0.018;0.041;0.012;0.053	B;B;B;B	0.22601	0.022;0.01;0.01;0.04	T	0.64715	-0.6342	10	0.19147	T	0.46	-8.1953	19.9312	0.97120	0.0:1.0:0.0:0.0	.	464;353;487;488	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	S	464;488;488;488	ENSP00000443792:G464S;ENSP00000302501:G488S;ENSP00000386854:G488S;ENSP00000395496:G488S	ENSP00000302501:G488S	G	-	1	0	ZEB2	144873762	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.952000	0.56691	2.700000	0.92200	0.650000	0.86243	GGT		PASS	0.413	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		37	35	37	35	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152521924	152521924	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:152521924C>A	ENST00000172853.10	-	42	5308	c.5161G>T	c.(5161-5163)Gag>Tag	p.E1721*	NEB_ENST00000603639.1_Nonsense_Mutation_p.E1721*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E1721*|NEB_ENST00000409198.1_Nonsense_Mutation_p.E1721*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E1721*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E1721*			P20929	NEBU_HUMAN	nebulin	1721					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E1721*(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAGCTTCTCGGGGTGCTGG	0.507																																						uc010fnx.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(5161-5163)GAG>TAG		nebulin isoform 3							235.0	230.0	232.0					2																	152521924		2055	4190	6245	SO:0001587	stop_gained	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152521924C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5161G>T	2.37:g.152521924C>A	ENSP00000172853:p.Glu1721*						p.E1721*	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	42	5352	-			1721			Nebulin 44.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.5161G>T		.	.	.	.	.	.	.	.	.	.	C	46	12.479583	0.99671	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	6.16	6.16	0.99307	.	0.270973	0.40302	N	0.001132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	1721	.	ENSP00000172853:E1721X	E	-	1	0	NEB	152230170	0.752000	0.28338	0.973000	0.42090	0.723000	0.41478	1.468000	0.35332	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.507	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		23	13	23	13	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152522777	152522777	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:152522777C>A	ENST00000172853.10	-	41	5005	c.4858G>T	c.(4858-4860)Gcc>Tcc	p.A1620S	NEB_ENST00000603639.1_Missense_Mutation_p.A1620S|NEB_ENST00000397345.3_Missense_Mutation_p.A1620S|NEB_ENST00000409198.1_Missense_Mutation_p.A1620S|NEB_ENST00000427231.2_Missense_Mutation_p.A1620S|NEB_ENST00000604864.1_Missense_Mutation_p.A1620S			P20929	NEBU_HUMAN	nebulin	1620					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A1620S(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTTGCTGGCTTCATAGCCC	0.463																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(4858-4860)GCC>TCC		nebulin isoform 3							394.0	369.0	377.0					2																	152522777		2037	4187	6224	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152522777C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4858G>T	2.37:g.152522777C>A	ENSP00000172853:p.Ala1620Ser						p.A1620S	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	41	5049	-			1620			Nebulin 41.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.4858G>T		.	.	.	.	.	.	.	.	.	.	C	14.79	2.641397	0.47153	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.76	5.76	0.90799	.	0.191790	0.46442	D	0.000289	T	0.39064	0.1064	N	0.14661	0.345	0.80722	D	1	B	0.26318	0.146	B	0.42625	0.393	T	0.33854	-0.9852	10	0.23891	T	0.37	.	10.3863	0.44143	0.0:0.855:0.0:0.145	.	1620	P20929	NEBU_HUMAN	S	1620	ENSP00000386259:A1620S;ENSP00000380505:A1620S;ENSP00000416578:A1620S;ENSP00000172853:A1620S	ENSP00000172853:A1620S	A	-	1	0	NEB	152231023	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.363000	0.34159	2.721000	0.93114	0.591000	0.81541	GCC		PASS	0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		47	111	47	111	---	---	---	---
CCDC148	130940	broad.mit.edu	37	2	159107382	159107382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:159107382C>A	ENST00000283233.5	-	10	1466	c.1153G>T	c.(1153-1155)Gaa>Taa	p.E385*	CCDC148_ENST00000409187.1_Nonsense_Mutation_p.E394*	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	385								p.E385*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATTTCCATTTCCAGTCTTGCT	0.388																																						uc002tzq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1153-1155)GAA>TAA		coiled-coil domain containing 148							80.0	76.0	77.0					2																	159107382		2202	4300	6502	SO:0001587	stop_gained	130940							g.chr2:159107382C>A		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1153G>T	2.37:g.159107382C>A	ENSP00000283233:p.Glu385*					CCDC148_uc002tzr.2_Nonsense_Mutation_p.E233*|CCDC148_uc010foh.2_Nonsense_Mutation_p.E98*	p.E385*	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			10	1416	-			385			Potential.		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Nonsense_Mutation	SNP	ENST00000283233.5	37	c.1153G>T	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	39	7.487742	0.98316	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-21.6214	16.9376	0.86207	0.0:1.0:0.0:0.0	.	.	.	.	X	385;233;394	.	ENSP00000283233:E385X	E	-	1	0	CCDC148	158815628	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	4.482000	0.60257	2.672000	0.90937	0.591000	0.81541	GAA		PASS	0.388	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		3	31	3	31	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159536994	159536994	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:159536994A>G	ENST00000389759.3	+	22	3496	c.3384A>G	c.(3382-3384)gcA>gcG	p.A1128A	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Silent_p.A1085A|AC005042.4_ENST00000442666.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1128					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.A1128A(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACTTTGATGCATACAGATTGT	0.343										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(3382-3384)GCA>GCG		plakophilin 4 isoform a							101.0	95.0	97.0					2																	159536994		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159536994A>G	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3384A>G	2.37:g.159536994A>G		HNSCC(62;0.18)				PKP4_uc002tzw.2_Silent_p.A1085A|PKP4_uc002tzx.2_Silent_p.A785A|PKP4_uc002uaa.2_Silent_p.A937A|uc002uab.1_Intron|PKP4_uc002uac.2_Silent_p.A309A|PKP4_uc002uad.2_RNA	p.A1128A	NM_003628	NP_003619	Q99569	PKP4_HUMAN			22	3644	+			1128					Q86W91	Silent	SNP	ENST00000389759.3	37	c.3384A>G	CCDS33305.1																																																																																				PASS	0.343	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			56	42	56	42	---	---	---	---
GCG	2641	broad.mit.edu	37	2	163003868	163003868	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:163003868C>A	ENST00000418842.2	-	3	503	c.249G>T	c.(247-249)agG>agT	p.R83S	GCG_ENST00000375497.3_Missense_Mutation_p.R83S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	83		Cleavage; by PCSK1 and PCSK2.			adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R83S(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CTTACCTGTTCCTCTTGGTAT	0.408																																						uc002ucc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(247-249)AGG>AGT		glucagon preproprotein	Exenatide(DB01276)|Phentolamine(DB00692)						180.0	174.0	176.0					2																	163003868		1913	4135	6048	SO:0001583	missense	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163003868C>A		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.249G>T	2.37:g.163003868C>A	ENSP00000387662:p.Arg83Ser						p.R83S	NM_002054	NP_002045	P01275	GLUC_HUMAN			3	348	-			83				Cleavage; by PCSK1 and PCSK2.	A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	c.249G>T	CCDS46439.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939455	0.52972	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.54479	0.57;0.57	5.5	0.546	0.17196	.	0.174336	0.64402	D	0.000012	T	0.47764	0.1463	M	0.70595	2.14	0.80722	D	1	P	0.50617	0.937	B	0.40410	0.328	T	0.51741	-0.8667	10	0.87932	D	0	2.4559	10.1167	0.42596	0.0:0.4447:0.0:0.5553	.	83	P01275	GLUC_HUMAN	S	83	ENSP00000387662:R83S;ENSP00000364647:R83S	ENSP00000364647:R83S	R	-	3	2	GCG	162712114	0.956000	0.32656	0.995000	0.50966	0.966000	0.64601	0.102000	0.15272	-0.080000	0.12685	-0.345000	0.07892	AGG		PASS	0.408	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		46	107	46	107	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166152382	166152382	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:166152382T>A	ENST00000375437.2	+	2	339	c.49T>A	c.(49-51)Ttt>Att	p.F17I	SCN2A_ENST00000357398.3_Missense_Mutation_p.F17I|SCN2A_ENST00000375427.2_Missense_Mutation_p.F17I|SCN2A_ENST00000283256.6_Missense_Mutation_p.F17I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	17					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F17I(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCCGCTTCTTTACCAGGGA	0.483																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(49-51)TTT>ATT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						83.0	75.0	78.0					2																	166152382		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166152382T>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.49T>A	2.37:g.166152382T>A	ENSP00000364586:p.Phe17Ile					SCN2A_uc002udd.2_Missense_Mutation_p.F17I|SCN2A_uc002ude.2_Missense_Mutation_p.F17I	p.F17I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			2	339	+			17					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.49T>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900934	0.72754	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98313	-4.63;-4.85;-4.86;-4.85;-4.86	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	D	0.98720	0.9570	H	0.96633	3.855	0.58432	D	0.999999	P;P	0.44946	0.846;0.761	P;B	0.44518	0.452;0.265	D	0.99655	1.0992	10	0.87932	D	0	.	15.7049	0.77569	0.0:0.0:0.0:1.0	.	17;17	Q99250-2;Q99250	.;SCN2A_HUMAN	I	17	ENSP00000406454:F17I;ENSP00000364586:F17I;ENSP00000349973:F17I;ENSP00000283256:F17I;ENSP00000364576:F17I	ENSP00000283256:F17I	F	+	1	0	SCN2A	165860628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.117000	0.64856	0.533000	0.62120	TTT		PASS	0.483	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		5	25	5	25	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166245260	166245260	+	Silent	SNP	G	G	T	rs565309819	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:166245260G>T	ENST00000375437.2	+	27	5234	c.4944G>T	c.(4942-4944)acG>acT	p.T1648T	SCN2A_ENST00000357398.3_Silent_p.T1648T|SCN2A_ENST00000375427.2_Silent_p.T1648T|SCN2A_ENST00000283256.6_Silent_p.T1648T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1648					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T1648T(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGATCCGCACGCTGCTCTTTG	0.488																																						uc002udc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(4942-4944)ACG>ACT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						94.0	95.0	95.0					2																	166245260		2203	4297	6500	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245260G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4944G>T	2.37:g.166245260G>T						SCN2A_uc002udd.2_Silent_p.T1648T|SCN2A_uc002ude.2_Silent_p.T1648T	p.T1648T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	5234	+			1648			IV.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.4944G>T	CCDS33314.1																																																																																				PASS	0.488	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		18	63	18	63	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848103	166848103	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:166848103C>A	ENST00000303395.4	-	26	5681	c.5682G>T	c.(5680-5682)atG>atT	p.M1894I	SCN1A_ENST00000423058.2_Missense_Mutation_p.M1894I|SCN1A_ENST00000375405.3_Missense_Mutation_p.M1883I|SCN1A_ENST00000409050.1_Missense_Mutation_p.M1866I|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1894					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.M1894I(1)|p.M1883I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATTGGAAGCCATGAATCGCT	0.428																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5647-5649)ATG>ATT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100.0	93.0	95.0					2																	166848103		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848103C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5682G>T	2.37:g.166848103C>A	ENSP00000303540:p.Met1894Ile						p.M1883I	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5667	-			1894					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5649G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735541	0.69189	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96265	-3.96;-3.96;-3.92;-3.9	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.71581	2.175	0.80722	D	1	P	0.52577	0.954	P	0.51866	0.682	D	0.96369	0.9272	10	0.44086	T	0.13	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	1883	P35498-2	.	I	1894;1894;1883;1866	ENSP00000407030:M1894I;ENSP00000303540:M1894I;ENSP00000364554:M1883I;ENSP00000386312:M1866I	ENSP00000303540:M1894I	M	-	3	0	SCN1A	166556349	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.752000	0.85141	2.788000	0.95919	0.650000	0.86243	ATG		PASS	0.428	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		15	41	15	41	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102849	168102849	+	Silent	SNP	T	T	A	rs372527771		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:168102849T>A	ENST00000409195.1	+	9	5036	c.4947T>A	c.(4945-4947)gcT>gcA	p.A1649A	XIRP2_ENST00000409273.1_Silent_p.A1427A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.A1649A|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1474					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.A1649A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTTCATGCTGAAAAAGAAG	0.333																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(4945-4947)GCT>GCA		xin actin-binding repeat containing 2 isoform 1							49.0	46.0	47.0					2																	168102849		1843	4077	5920	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102849T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4947T>A	2.37:g.168102849T>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.A1474A|XIRP2_uc010fpq.2_Silent_p.A1427A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.A1649A	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4965	+			1474					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.4947T>A	CCDS42769.1																																																																																				PASS	0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	36	13	36	---	---	---	---
ITGA6	3655	broad.mit.edu	37	2	173362747	173362747	+	Silent	SNP	G	G	A	rs373241747		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:173362747G>A	ENST00000264106.6	+	25	3353	c.3150G>A	c.(3148-3150)tcG>tcA	p.S1050S	ITGA6_ENST00000409080.1_Silent_p.S1011S|ITGA6_ENST00000409532.1_Silent_p.S892S|ITGA6_ENST00000264107.7_Silent_p.S1011S|ITGA6_ENST00000343713.4_Silent_p.S1006S|ITGA6_ENST00000375221.2_Silent_p.S1050S|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	1050					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S1011S(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTCAGTATTCGGGAGTACCTT	0.443																																						uc002uhp.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(3031-3033)TCG>TCA		integrin alpha chain, alpha 6 isoform a		G	,	0,4406		0,0,2203	257.0	227.0	237.0		3033,3033	-5.9	0.6	2		237	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ITGA6	NM_000210.2,NM_001079818.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1011/1074,1011/1092	173362747	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173362747G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3150G>A	2.37:g.173362747G>A						ITGA6_uc010zdy.1_Silent_p.S892S|ITGA6_uc002uho.1_Silent_p.S1011S|ITGA6_uc010fqm.1_Silent_p.S642S	p.S1011S	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		24	3236	+			1050			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.3033G>A																																																																																					PASS	0.443	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				24	51	24	51	---	---	---	---
RBM45	129831	broad.mit.edu	37	2	178977276	178977276	+	Start_Codon_SNP	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:178977276G>A	ENST00000286070.5	+	1	95	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	1					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.M1I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GGAGCACCATGGACGAAGCTG	0.647											OREG0006960|OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|Gene=DRB1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002ulv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATA		RNA binding motif protein 45							27.0	32.0	30.0					2																	178977276		2202	4296	6498	SO:0001582	initiator_codon_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977276G>A	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.3G>A	2.37:g.178977276G>A	ENSP00000286070:p.Met1Ile		OREG0015102|OREG0006960	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|Gene=DRB1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1950		p.M1I	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	95	+			1					Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.3G>A	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539944	0.65085	.	.	ENSG00000155636	ENST00000286070	T	0.04502	3.61	5.01	4.14	0.48551	.	0.079381	0.49916	D	0.000136	T	0.05410	0.0143	.	.	.	0.80722	D	1	B	0.20780	0.048	B	0.16289	0.015	T	0.25950	-1.0117	9	0.62326	D	0.03	-16.9224	10.7301	0.46091	0.0891:0.0:0.9109:0.0	.	1	Q8IUH3-3	.	I	1	ENSP00000286070:M1I	ENSP00000286070:M1I	M	+	3	0	RBM45	178685522	1.000000	0.71417	0.997000	0.53966	0.444000	0.32077	4.216000	0.58540	1.333000	0.45449	0.563000	0.77884	ATG		PASS	0.647	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	Missense_Mutation	15	13	15	13	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179453271	179453271	+	Missense_Mutation	SNP	G	G	T	rs375401971		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:179453271G>T	ENST00000591111.1	-	254	58482	c.58258C>A	c.(58258-58260)Ccc>Acc	p.P19420T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12121T|TTN_ENST00000460472.2_Missense_Mutation_p.P11996T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P21061T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18493T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12188T|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19420	Fibronectin type-III 40. {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.P11996T(1)|p.P12121T(1)|p.P18493T(1)|p.P18491T(1)|p.P12188T(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)			CTACCTATGGGGTCTTTTGCC	0.398																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(55477-55479)CCC>ACC		titin isoform N2-A							184.0	170.0	175.0					2																	179453271		1863	4103	5966	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453271G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58258C>A	2.37:g.179453271G>T	ENSP00000465570:p.Pro19420Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12188T|TTN_uc010zfi.1_Missense_Mutation_p.P12121T|TTN_uc010zfj.1_Missense_Mutation_p.P11996T	p.P18493T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	55701	-			19420					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55477C>A		.	.	.	.	.	.	.	.	.	.	G	14.51	2.557659	0.45590	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	6.16	6.16	0.99307	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67477	0.2897	M	0.69523	2.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.66716	-0.5853	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	11996;12121;12188;19420	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	18493;11996;12188;12121;11994	ENSP00000343764:P18493T;ENSP00000434586:P11996T;ENSP00000340554:P12188T;ENSP00000352154:P12121T	ENSP00000340554:P12188T	P	-	1	0	TTN	179161517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.937000	0.99478	0.650000	0.86243	CCC		PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		60	91	60	91	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179598064	179598064	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:179598064T>C	ENST00000591111.1	-	52	15229	c.15005A>G	c.(15004-15006)aAa>aGa	p.K5002R	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K5319R|TTN_ENST00000342992.6_Missense_Mutation_p.K4075R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12381	Ig-like 30.				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.K4075R(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)			TGAATAAAATTTGAGCTGGGC	0.443																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12223-12225)AAA>AGA		titin isoform N2-A							89.0	86.0	87.0					2																	179598064		1834	4097	5931	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598064T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15005A>G	2.37:g.179598064T>C	ENSP00000465570:p.Lys5002Arg					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K736R	p.K4075R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		51	12448	-			5002					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12224A>G		.	.	.	.	.	.	.	.	.	.	T	15.48	2.845169	0.51164	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70885	0.3275	L	0.38733	1.17	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.74006	-0.3803	9	0.87932	D	0	.	16.254	0.82501	0.0:0.0:0.0:1.0	.	5002	Q8WZ42	TITIN_HUMAN	R	4075	ENSP00000343764:K4075R	ENSP00000343764:K4075R	K	-	2	0	TTN	179306309	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.036000	0.88901	2.232000	0.73038	0.533000	0.62120	AAA		PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	38	36	38	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179742707	179742707	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:179742707A>T	ENST00000409284.1	-	12	2000	c.1883T>A	c.(1882-1884)cTt>cAt	p.L628H	CCDC141_ENST00000420890.2_Missense_Mutation_p.L628H|CCDC141_ENST00000295723.5_Missense_Mutation_p.L53H			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	628								p.L628H(2)|p.L53H(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TATTAAATTAAGGAACTCAAG	0.363																																						uc002unf.1																			3	Substitution - Missense(3)		lung(3)	ovary(7)|pancreas(2)|skin(1)	10						c.(157-159)CTT>CAT		coiled-coil domain containing 141							95.0	101.0	99.0					2																	179742707		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179742707A>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1883T>A	2.37:g.179742707A>T	ENSP00000386503:p.Leu628His					CCDC141_uc002ung.2_Missense_Mutation_p.L628H	p.L53H	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		2	215	-			53					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000409284.1	37	c.158T>A		.	.	.	.	.	.	.	.	.	.	A	19.03	3.748860	0.69533	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.56941	0.44;0.43;0.49;1.01	5.32	5.32	0.75619	.	0.154587	0.29722	N	0.011376	T	0.61578	0.2358	L	0.32530	0.975	0.31066	N	0.713531	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.65784	-0.6084	10	0.59425	D	0.04	-5.0167	12.785	0.57500	1.0:0.0:0.0:0.0	.	628;53	B8ZZB3;Q6ZP82	.;CC141_HUMAN	H	628;72;53;628;563;628	ENSP00000395995:L628H;ENSP00000344627:L72H;ENSP00000295723:L53H;ENSP00000390190:L628H	ENSP00000295723:L53H	L	-	2	0	CCDC141	179450952	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.168000	0.64978	1.999000	0.58509	0.477000	0.44152	CTT		PASS	0.363	CCDC141-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000335873.1	NM_173648		23	65	23	65	---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183866885	183866885	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:183866885T>C	ENST00000361354.4	-	5	854	c.482A>G	c.(481-483)aAc>aGc	p.N161S	NCKAP1_ENST00000360982.2_Missense_Mutation_p.N167S	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	161					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.N167S(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGGGCATAGTTGTATAATCC	0.313																																						uc002upc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(481-483)AAC>AGC		NCK-associated protein 1 isoform 1							132.0	134.0	134.0					2																	183866885		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183866885T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.482A>G	2.37:g.183866885T>C	ENSP00000355348:p.Asn161Ser					NCKAP1_uc002upb.2_Missense_Mutation_p.N167S	p.N161S	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		5	884	-			161					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.482A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038314	0.75617	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.38887	1.11;1.11	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	M	0.78637	2.42	0.80722	D	1	P;P	0.48911	0.917;0.898	P;P	0.51918	0.684;0.557	T	0.62613	-0.6817	10	0.54805	T	0.06	-12.7428	15.8173	0.78612	0.0:0.0:0.0:1.0	.	161;167	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	S	161;167	ENSP00000355348:N161S;ENSP00000354251:N167S	ENSP00000354251:N167S	N	-	2	0	NCKAP1	183575130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.896000	0.87350	2.200000	0.70718	0.533000	0.62120	AAC		PASS	0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		31	64	31	64	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189861179	189861179	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:189861179G>A	ENST00000304636.3	+	24	1888	c.1718G>A	c.(1717-1719)gGt>gAt	p.G573D	COL3A1_ENST00000317840.5_Missense_Mutation_p.G573D	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	573	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G573D(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGTCCCCGAGGTCAGCCTGGT	0.418																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1717-1719)GGT>GAT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						45.0	48.0	47.0					2																	189861179		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189861179G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1718G>A	2.37:g.189861179G>A	ENSP00000304408:p.Gly573Asp						p.G573D	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		24	1835	+			573			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1718G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390113	0.82902	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99619	-6.28;-6.28	5.74	5.74	0.90152	.	0.000000	0.52532	D	0.000070	D	0.99862	0.9935	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96440	0.9326	10	0.87932	D	0	.	19.9185	0.97074	0.0:0.0:1.0:0.0	.	573	P02461	CO3A1_HUMAN	D	573	ENSP00000304408:G573D;ENSP00000315243:G573D	ENSP00000304408:G573D	G	+	2	0	COL3A1	189569424	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.585000	0.98223	2.711000	0.92665	0.561000	0.74099	GGT		PASS	0.418	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		18	18	18	18	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189872290	189872290	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:189872290G>A	ENST00000304636.3	+	45	3490	c.3320G>A	c.(3319-3321)gGa>gAa	p.G1107E	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1107	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G1107E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGCATCAAAGGACATCGAGGA	0.428																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(3319-3321)GGA>GAA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						66.0	58.0	61.0					2																	189872290		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189872290G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3320G>A	2.37:g.189872290G>A	ENSP00000304408:p.Gly1107Glu						p.G1107E	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		45	3437	+			1107			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3320G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059310	0.93846	.	.	ENSG00000168542	ENST00000304636	D	0.99619	-6.28	5.36	5.36	0.76844	.	0.000000	0.50627	D	0.000113	D	0.99832	0.9924	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96641	0.9474	10	0.87932	D	0	.	19.0947	0.93246	0.0:0.0:1.0:0.0	.	1107	P02461	CO3A1_HUMAN	E	1107	ENSP00000304408:G1107E	ENSP00000304408:G1107E	G	+	2	0	COL3A1	189580535	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.830000	0.99415	2.529000	0.85273	0.650000	0.86243	GGA		PASS	0.428	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	11	4	11	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196726627	196726627	+	Nonsense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:196726627A>T	ENST00000312428.6	-	42	7650	c.7550T>A	c.(7549-7551)tTg>tAg	p.L2517*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2517	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L2517*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATTTCTTCCAAGAATCGTGA	0.368																																						uc002utj.3																			1	Substitution - Nonsense(1)		lung(1)	skin(10)|ovary(2)	12						c.(7549-7551)TTG>TAG		dynein, axonemal, heavy chain 7							110.0	103.0	105.0					2																	196726627		1878	4108	5986	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196726627A>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7550T>A	2.37:g.196726627A>T	ENSP00000311273:p.Leu2517*						p.L2517*	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			42	7651	-			2517			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.7550T>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	47	13.401845	0.99740	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9245	0.79606	1.0:0.0:0.0:0.0	.	.	.	.	X	2517	.	ENSP00000311273:L2517X	L	-	2	0	DNAH7	196434872	1.000000	0.71417	0.992000	0.48379	0.016000	0.09150	9.097000	0.94193	2.239000	0.73571	0.528000	0.53228	TTG		PASS	0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	45	5	45	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196729219	196729219	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:196729219C>A	ENST00000312428.6	-	41	7260	c.7160G>T	c.(7159-7161)tGt>tTt	p.C2387F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2387	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.C2387F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCTTCCGCACATTTCCTTAA	0.403																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(7159-7161)TGT>TTT		dynein, axonemal, heavy chain 7							108.0	106.0	107.0					2																	196729219		1912	4119	6031	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729219C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7160G>T	2.37:g.196729219C>A	ENSP00000311273:p.Cys2387Phe						p.C2387F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	7261	-			2387			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7160G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344254	0.24339	.	.	ENSG00000118997	ENST00000312428	T	0.41400	1.0	5.07	3.18	0.36537	Dynein heavy chain, P-loop containing D4 domain (1);	0.056810	0.64402	D	0.000001	T	0.43344	0.1243	L	0.58583	1.82	0.80722	D	1	B	0.24043	0.096	B	0.38156	0.266	T	0.51004	-0.8760	10	0.87932	D	0	.	7.9146	0.29810	0.0:0.5441:0.3624:0.0936	.	2387	Q8WXX0	DYH7_HUMAN	F	2387	ENSP00000311273:C2387F	ENSP00000311273:C2387F	C	-	2	0	DNAH7	196437464	1.000000	0.71417	0.414000	0.26521	0.265000	0.26407	4.713000	0.61895	2.636000	0.89361	0.557000	0.71058	TGT		PASS	0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		3	56	3	56	---	---	---	---
ORC2	4999	broad.mit.edu	37	2	201796149	201796149	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:201796149C>A	ENST00000234296.2	-	11	1079	c.830G>T	c.(829-831)aGc>aTc	p.S277I		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	277					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)	p.S277I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GGAAACCTTGCTCAATAAGTT	0.333																																						uc002uwr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)AGC>ATC		origin recognition complex, subunit 2							69.0	69.0	69.0					2																	201796149		2203	4300	6503	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201796149C>A		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.830G>T	2.37:g.201796149C>A	ENSP00000234296:p.Ser277Ile					ORC2L_uc010zhj.1_Missense_Mutation_p.S277I	p.S277I	NM_006190	NP_006181	Q13416	ORC2_HUMAN			11	1087	-			277					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.830G>T	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725581	0.48833	.	.	ENSG00000115942	ENST00000234296	T	0.46451	0.87	5.67	3.87	0.44632	.	0.523681	0.23710	N	0.045332	T	0.35335	0.0928	L	0.39147	1.195	0.27448	N	0.953514	B;P	0.48764	0.042;0.915	B;P	0.48227	0.071;0.571	T	0.24261	-1.0165	10	0.45353	T	0.12	-1.8314	3.4434	0.07472	0.1856:0.553:0.0:0.2614	.	277;277	B4DYU9;Q13416	.;ORC2_HUMAN	I	277	ENSP00000234296:S277I	ENSP00000234296:S277I	S	-	2	0	ORC2	201504394	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	1.442000	0.35046	1.393000	0.46605	0.561000	0.74099	AGC		PASS	0.333	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		16	40	16	40	---	---	---	---
ORC2	4999	broad.mit.edu	37	2	201796151	201796151	+	Silent	SNP	C	C	T	rs201070666		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:201796151C>T	ENST00000234296.2	-	11	1077	c.828G>A	c.(826-828)ttG>ttA	p.L276L		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	276					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)	p.L276L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						AAACCTTGCTCAATAAGTTAC	0.333																																						uc002uwr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(826-828)TTG>TTA		origin recognition complex, subunit 2							68.0	68.0	68.0					2																	201796151		2203	4300	6503	SO:0001819	synonymous_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201796151C>T		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.828G>A	2.37:g.201796151C>T						ORC2L_uc010zhj.1_Silent_p.L276L	p.L276L	NM_006190	NP_006181	Q13416	ORC2_HUMAN			11	1085	-			276					Q13204|Q53TX5	Silent	SNP	ENST00000234296.2	37	c.828G>A	CCDS2334.1																																																																																				PASS	0.333	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		15	41	15	41	---	---	---	---
TRAK2	66008	broad.mit.edu	37	2	202252712	202252712	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:202252712C>A	ENST00000332624.3	-	13	1838	c.1410G>T	c.(1408-1410)aaG>aaT	p.K470N		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	470	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.K470N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GTTGGCCCATCTTCTGGGAGC	0.458																																						uc002uyb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1408-1410)AAG>AAT		trafficking protein, kinesin binding 2							80.0	88.0	85.0					2																	202252712		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202252712C>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1410G>T	2.37:g.202252712C>A	ENSP00000328875:p.Lys470Asn						p.K470N	NM_015049	NP_055864	O60296	TRAK2_HUMAN			13	1856	-			470	Missing (in Ref. 2).		Interaction with HGS (By similarity).		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1410G>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062383	0.36373	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.47177	0.85	5.68	-6.06	0.02165	Trafficking kinesin-binding protein domain (1);	0.646406	0.15290	N	0.270205	T	0.27731	0.0682	L	0.45051	1.395	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.11446	-1.0587	10	0.38643	T	0.18	.	2.1942	0.03906	0.2615:0.233:0.3428:0.1626	.	470	O60296	TRAK2_HUMAN	N	470;376	ENSP00000328875:K470N	ENSP00000328875:K470N	K	-	3	2	TRAK2	201960957	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.265000	0.08644	-1.177000	0.02744	-0.175000	0.13238	AAG		PASS	0.458	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		28	68	28	68	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209188864	209188864	+	Splice_Site	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:209188864A>T	ENST00000264380.4	+	18	2348		c.e18-1			NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing						cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATCTTACTTAGGAAAGGGAA	0.388																																						uc002vcz.2																			1	Unknown(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.e18-2		phosphatidylinositol-3-phosphate 5-kinase type							117.0	117.0	117.0					2																	209188864		2203	4300	6503	SO:0001630	splice_region_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209188864A>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2191-1A>T	2.37:g.209188864A>T						PIKFYVE_uc010fun.1_Splice_Site_p.E412_splice|PIKFYVE_uc002vcy.1_Splice_Site_p.E675_splice	p.E731_splice	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			18	2349	+								Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Splice_Site	SNP	ENST00000264380.4	37	c.2191_splice	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277774	0.80692	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6334	0.68673	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIKFYVE	208897109	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	9.339000	0.96797	2.196000	0.70406	0.374000	0.22700	.		PASS	0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	Intron	30	34	30	34	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212566892	212566892	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:212566892C>A	ENST00000342788.4	-	12	1600		c.e12-1		ERBB4_ENST00000436443.1_Splice_Site|ERBB4_ENST00000402597.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGACAGGCCACTAAGGAGGGG	0.418										TSP Lung(8;0.080)																												uc002veg.1																			1	Unknown(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.e12-1		v-erb-a erythroblastic leukemia viral oncogene							89.0	84.0	85.0					2																	212566892		2203	4300	6503	SO:0001630	splice_region_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212566892C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1290-1G>T	2.37:g.212566892C>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Splice_Site_p.S430_splice|ERBB4_uc010zji.1_Splice_Site_p.S430_splice|ERBB4_uc010zjj.1_Splice_Site_p.S430_splice|ERBB4_uc010fut.1_Splice_Site_p.S430_splice	p.S430_splice	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	12	1388	-		Renal(323;0.06)|Lung NSC(271;0.197)						B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Splice_Site	SNP	ENST00000342788.4	37	c.1290_splice	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147521	0.77888	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000260943	.	.	.	5.71	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1837	0.81929	0.1341:0.8658:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERBB4	212275137	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	7.794000	0.85869	1.414000	0.47017	0.650000	0.86243	.		PASS	0.418	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	Intron	38	24	38	24	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214181977	214181977	+	Silent	SNP	A	A	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:214181977A>C	ENST00000331683.5	+	5	528	c.433A>C	c.(433-435)Aga>Cga	p.R145R	SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Silent_p.R145R|SPAG16_ENST00000432529.2_Silent_p.R145R|SPAG16_ENST00000413312.1_Silent_p.R114R|SPAG16_ENST00000374309.3_Silent_p.R51R|SPAG16_ENST00000447990.1_Silent_p.R145R	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	145					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R145R(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GACTGAACTTAGAACTGTTGG	0.333																																						uc002veq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(433-435)AGA>CGA		sperm associated antigen 16 isoform 1							96.0	99.0	98.0					2																	214181977		2203	4296	6499	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214181977A>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.433A>C	2.37:g.214181977A>C						SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Silent_p.R91R|SPAG16_uc010zjk.1_Silent_p.R51R|SPAG16_uc002veo.2_Silent_p.R145R|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.R114R	p.R145R	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	5	525	+		Renal(323;0.00461)	145					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.433A>C	CCDS2396.1																																																																																				PASS	0.333	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		5	46	5	46	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	215274863	215274863	+	Splice_Site	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:215274863G>T	ENST00000331683.5	+	16	1815		c.e16-1		VWC2L_ENST00000427124.1_5'Flank|VWC2L_ENST00000312504.5_5'Flank|SPAG16_ENST00000374309.3_Splice_Site|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16						cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.?(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTCTCCCTCAGGTCGAGTTTT	0.393																																						uc002veq.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e16-1		sperm associated antigen 16 isoform 1							70.0	68.0	68.0					2																	215274863		2203	4300	6503	SO:0001630	splice_region_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215274863G>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1721-1G>T	2.37:g.215274863G>T						SPAG16_uc002ver.2_Splice_Site_p.G520_splice|SPAG16_uc010zjk.1_Splice_Site_p.G480_splice|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	p.G574_splice	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	16	1813	+		Renal(323;0.00461)						Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Splice_Site	SNP	ENST00000331683.5	37	c.1721_splice	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681361	0.47991	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2593	0.87065	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAG16	214983108	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	5.853000	0.69496	2.579000	0.87056	0.563000	0.77884	.		PASS	0.393	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	Intron	30	29	30	29	---	---	---	---
CXCR1	3577	broad.mit.edu	37	2	219029727	219029727	+	Missense_Mutation	SNP	C	C	A	rs149163975	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:219029727C>A	ENST00000295683.2	-	2	328	c.208G>T	c.(208-210)Ggc>Tgc	p.G70C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	70					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)	p.G70C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	ACGGAGCGGCCGACCCTGCTG	0.567																																						uc002vhc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(208-210)GGC>TGC		interleukin 8 receptor alpha							157.0	147.0	150.0					2																	219029727		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029727C>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.208G>T	2.37:g.219029727C>A	ENSP00000295683:p.Gly70Cys						p.G70C	NM_000634	NP_000625	P25024	CXCR1_HUMAN			2	327	-			70			Cytoplasmic (Potential).		B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.208G>T	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399153	0.25291	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.37058	1.22	5.21	-3.28	0.05033	GPCR, rhodopsin-like superfamily (1);	0.700308	0.14918	N	0.290833	T	0.38825	0.1055	L	0.61218	1.895	0.09310	N	1	D	0.61080	0.989	P	0.56563	0.801	T	0.23940	-1.0174	10	0.52906	T	0.07	.	2.2118	0.03950	0.1253:0.3453:0.1275:0.4019	.	70	P25024	CXCR1_HUMAN	C	70	ENSP00000295683:G70C	ENSP00000295683:G70C	G	-	1	0	CXCR1	218737972	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.926000	0.03988	-0.322000	0.08615	-1.202000	0.01658	GGC		PASS	0.567	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		47	46	47	46	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220167145	220167145	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:220167145G>T	ENST00000295718.2	-	6	948	c.708C>A	c.(706-708)ccC>ccA	p.P236P	PTPRN_ENST00000423636.2_Silent_p.P146P|PTPRN_ENST00000409251.3_Silent_p.P236P|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	236					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P236P(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTTCAGCCTTGGGCAGGGGGC	0.622																																						uc002vkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(706-708)CCC>CCA		protein tyrosine phosphatase, receptor type, N							26.0	30.0	29.0					2																	220167145		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167145G>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.708C>A	2.37:g.220167145G>T						PTPRN_uc010zlc.1_Silent_p.P146P|PTPRN_uc002vla.2_Silent_p.P236P	p.P236P	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	6	797	-		Renal(207;0.0474)	236			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.708C>A	CCDS2440.1																																																																																				PASS	0.622	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			10	23	10	23	---	---	---	---
OBSL1	23363	broad.mit.edu	37	2	220422617	220422617	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:220422617C>G	ENST00000404537.1	-	11	3774	c.3718G>C	c.(3718-3720)Gca>Cca	p.A1240P	OBSL1_ENST00000265317.5_Missense_Mutation_p.A231P|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Missense_Mutation_p.A1240P|OBSL1_ENST00000265318.4_Missense_Mutation_p.A1148P|OBSL1_ENST00000603926.1_Missense_Mutation_p.A1240P	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1240	Ig-like 10.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.A1240P(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TAGAGCCCTGCATGGGCTGGG	0.677																																						uc010fwk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3718-3720)GCA>CCA		obscurin-like 1							19.0	23.0	22.0					2																	220422617		1885	4082	5967	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220422617C>G	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3718G>C	2.37:g.220422617C>G	ENSP00000385636:p.Ala1240Pro					OBSL1_uc002vmh.1_Missense_Mutation_p.A231P|OBSL1_uc010zli.1_Missense_Mutation_p.A139P|OBSL1_uc010fwl.1_Missense_Mutation_p.A715P	p.A1240P	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	11	3775	-		Renal(207;0.0376)	1240			Ig-like 10.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.3718G>C	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.784963|2.784963	0.49997|0.49997	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317|ENST00000456147	T;T;T;T|.	0.69040|.	-0.37;-0.37;-0.37;-0.37|.	4.03|4.03	1.79|1.79	0.24919|0.24919	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.67767|0.67767	0.2928|0.2928	M|M	0.92604|0.92604	3.325|3.325	0.32540|0.32540	N|N	0.533751|0.533751	D;B;P;P|.	0.61080|.	0.989;0.418;0.851;0.954|.	D;P;P;D|.	0.71656|.	0.974;0.632;0.816;0.918|.	T|T	0.71286|0.71286	-0.4638|-0.4638	9|5	0.59425|.	D|.	0.04|.	.|.	4.1333|4.1333	0.10159|0.10159	0.1629:0.5133:0.0:0.3237|0.1629:0.5133:0.0:0.3237	.|.	139;1241;1240;231|.	B7Z5P5;A4KVA4;O75147;E7ER99|.	.;.;OBSL1_HUMAN;.|.	P|I	1148;1240;1240;231|233	ENSP00000265318:A1148P;ENSP00000385636:A1240P;ENSP00000362983:A1240P;ENSP00000265317:A231P|.	ENSP00000265317:A231P|.	A|M	-|-	1|3	0|0	OBSL1|OBSL1	220130861|220130861	0.000000|0.000000	0.05858|0.05858	0.889000|0.889000	0.34880|0.34880	0.684000|0.684000	0.39900|0.39900	-2.419000|-2.419000	0.01033|0.01033	0.183000|0.183000	0.20059|0.20059	0.313000|0.313000	0.20887|0.20887	GCA|ATG		PASS	0.677	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			3	14	3	14	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220501124	220501124	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:220501124G>T	ENST00000358055.3	+	15	2804	c.2292G>T	c.(2290-2292)gtG>gtT	p.V764V	SLC4A3_ENST00000373760.2_Silent_p.V764V|SLC4A3_ENST00000373762.3_Silent_p.V791V|SLC4A3_ENST00000273063.6_Silent_p.V791V|SLC4A3_ENST00000317151.3_Silent_p.V764V			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	764	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.V791V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTGCTTGTGGTTGGCTTCT	0.607																																						uc002vmp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(2290-2292)GTG>GTT		solute carrier family 4, anion exchanger, member							78.0	73.0	75.0					2																	220501124		2203	4299	6502	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501124G>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2292G>T	2.37:g.220501124G>T						SLC4A3_uc002vmo.3_Silent_p.V791V|SLC4A3_uc010fwm.2_Silent_p.V314V|SLC4A3_uc010fwn.1_Silent_p.V273V	p.V764V	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2561	+		Renal(207;0.0183)	764			Helical; (Potential).|Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.2292G>T	CCDS2445.1																																																																																				PASS	0.607	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		12	28	12	28	---	---	---	---
PER2	8864	broad.mit.edu	37	2	239155051	239155051	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:239155051A>T	ENST00000254657.3	-	23	4012	c.3733T>A	c.(3733-3735)Tcc>Acc	p.S1245T	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1245	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.S1245T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TTCAAGGGGGATCCATTTTCG	0.498																																						uc002vyc.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(3733-3735)TCC>ACC		period 2							123.0	101.0	108.0					2																	239155051		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239155051A>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3733T>A	2.37:g.239155051A>T	ENSP00000254657:p.Ser1245Thr						p.S1245T	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	23	3970	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1245			CRY binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.3733T>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	A	6.104	0.387527	0.11581	.	.	ENSG00000132326	ENST00000254657	T	0.10382	2.88	5.03	-8.8	0.00817	.	2.932020	0.01884	N	0.038063	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35201	-0.9798	10	0.13470	T	0.59	0.0034	1.5373	0.02548	0.215:0.3153:0.2858:0.184	.	1245	O15055	PER2_HUMAN	T	1245	ENSP00000254657:S1245T	ENSP00000254657:S1245T	S	-	1	0	PER2	238819790	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.902000	0.04088	-1.660000	0.01486	-1.816000	0.00601	TCC		PASS	0.498	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		4	8	4	8	---	---	---	---
D2HGDH	728294	broad.mit.edu	37	2	242674879	242674879	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:242674879G>A	ENST00000321264.4	+	2	449	c.240G>A	c.(238-240)acG>acA	p.T80T	D2HGDH_ENST00000403782.1_Intron|D2HGDH_ENST00000537090.1_Silent_p.T80T|AC114730.8_ENST00000400768.2_RNA|D2HGDH_ENST00000342518.6_Silent_p.T80T	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	80					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.T80T(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGGTCGTCACGGACCCGGAAG	0.697																																						uc002wce.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(238-240)ACG>ACA		D-2-hydroxyglutarate dehydrogenase precursor							18.0	24.0	22.0					2																	242674879		2025	4171	6196	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242674879G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.240G>A	2.37:g.242674879G>A						D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Intron|D2HGDH_uc002wcg.1_RNA	p.T80T	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	413	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	80					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.240G>A	CCDS33426.1																																																																																				PASS	0.697	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		4	9	4	9	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738525	242738525	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr2:242738525C>A	ENST00000192314.6	+	2	206	c.75C>A	c.(73-75)ctC>ctA	p.L25L	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	25					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L25L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGACTCTGCTCCTGCTGGCCG	0.647																																						uc002wcj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(73-75)CTC>CTA		galactose-3-O-sulfotransferase 2							98.0	89.0	92.0					2																	242738525		2203	4300	6503	SO:0001819	synonymous_variant	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738525C>A	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.75C>A	2.37:g.242738525C>A							p.L25L	NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	206	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	25			Helical; Signal-anchor for type II membrane protein; (Potential).		Q17RK0|Q57Z52	Silent	SNP	ENST00000192314.6	37	c.75C>A	CCDS33427.1																																																																																				PASS	0.647	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		16	42	16	42	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	432814	432814	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:432814G>T	ENST00000256509.2	+	22	3405	c.2763G>T	c.(2761-2763)gaG>gaT	p.E921D	CHL1_ENST00000397491.2_Missense_Mutation_p.E905D	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E921D(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGAAAGTGAGCCTTATATAT	0.383																																						uc003bou.2																			1	Substitution - Missense(1)	p.H905Y(1)	lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(2713-2715)GAG>GAT		cell adhesion molecule with homology to L1CAM							78.0	83.0	81.0					3																	432814		2203	4299	6502	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:432814G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2763G>T	3.37:g.432814G>T	ENSP00000256509:p.Glu921Asp					CHL1_uc003bot.2_Missense_Mutation_p.E921D|CHL1_uc003bow.1_Missense_Mutation_p.E905D|CHL1_uc011asi.1_Missense_Mutation_p.E921D	p.E905D	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	21	2986	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	905			Fibronectin type-III 3.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2715G>T	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.84|10.84	1.463286|1.463286	0.26248|0.26248	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	T;T|.	0.55052|.	0.54;0.54|.	5.75|5.75	2.72|2.72	0.32119|0.32119	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.479141|.	0.24039|.	N|.	0.042109|.	T|T	0.27241|0.27241	0.0668|0.0668	L|L	0.41236|0.41236	1.265|1.265	0.26794|0.26794	N|N	0.969347|0.969347	B;B;B|.	0.15141|.	0.012;0.012;0.001|.	B;B;B|.	0.20184|.	0.011;0.028;0.006|.	T|T	0.22103|0.22103	-1.0226|-1.0226	10|5	0.26408|.	T|.	0.33|.	.|.	1.1629|1.1629	0.01809|0.01809	0.1624:0.1935:0.3397:0.3044|0.1624:0.1935:0.3397:0.3044	.|.	905;905;921|.	B3KX75;O00533;O00533-2|.	.;CHL1_HUMAN;.|.	D|I	921;905|108	ENSP00000256509:E921D;ENSP00000380628:E905D|.	ENSP00000256509:E921D|.	E|S	+|+	3|2	2|0	CHL1|CHL1	407814|407814	0.238000|0.238000	0.23825|0.23825	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.216000|0.216000	0.17585|0.17585	1.424000|1.424000	0.47217|0.47217	0.655000|0.655000	0.94253|0.94253	GAG|AGC		PASS	0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		39	8	39	8	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9490271	9490271	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:9490271G>T	ENST00000406341.1	+	15	2493	c.2303G>T	c.(2302-2304)cGa>cTa	p.R768L	SETD5_ENST00000407969.1_Missense_Mutation_p.R787L|SETD5_ENST00000402198.1_Missense_Mutation_p.R768L|SETD5_ENST00000402466.1_Missense_Mutation_p.R670L|SETD5_ENST00000302463.6_Missense_Mutation_p.R670L|SETD5_ENST00000488236.1_3'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	768								p.R768L(1)|p.R670L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAGAGACGTCGAAGGCCCCTT	0.448																																						uc003brt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2302-2304)CGA>CTA		SET domain containing 5							72.0	69.0	70.0					3																	9490271		1934	4140	6074	SO:0001583	missense	55209							g.chr3:9490271G>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2303G>T	3.37:g.9490271G>T	ENSP00000383939:p.Arg768Leu					SETD5_uc003brs.1_Missense_Mutation_p.R749L|SETD5_uc003bru.2_Missense_Mutation_p.R670L|SETD5_uc003brv.2_Missense_Mutation_p.R657L|SETD5_uc010hck.2_Missense_Mutation_p.R250L|SETD5_uc003brx.2_Missense_Mutation_p.R437L	p.R768L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	16	2738	+	Medulloblastoma(99;0.227)		768					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2303G>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837040	0.91117	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.94576	-3.12;-3.46;-3.12;-3.1;-3.46	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	M	0.69823	2.125	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.995;0.995	D	0.97145	0.9827	10	0.87932	D	0	-7.7584	20.2602	0.98440	0.0:0.0:1.0:0.0	.	437;670;768;787	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	L	768;670;768;787;670	ENSP00000385852:R768L;ENSP00000384429:R670L;ENSP00000383939:R768L;ENSP00000384114:R787L;ENSP00000302028:R670L	ENSP00000302028:R670L	R	+	2	0	SETD5	9465271	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.861000	0.98227	0.655000	0.94253	CGA		PASS	0.448	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		20	7	20	7	---	---	---	---
IL17RE	132014	broad.mit.edu	37	3	9955643	9955643	+	Missense_Mutation	SNP	C	C	T	rs200160526		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:9955643C>T	ENST00000383814.3	+	13	1336	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	IL17RE_ENST00000454190.2_Missense_Mutation_p.R411W|IL17RE_ENST00000421412.1_Missense_Mutation_p.R444W|IL17RE_ENST00000295980.3_Missense_Mutation_p.R411W	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	411					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R411W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TCTACAGGCCCGGGGCTCAAG	0.577																																						uc003btu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1231-1233)CGG>TGG		interleukin 17 receptor E isoform 1		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	142.0	138.0	139.0		1231,1231,1351	3.1	1.0	3		139	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL17RE	NM_001193380.1,NM_153480.1,NM_153483.2	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	411/534,411/668,451/708	9955643	1,13005	2203	4300	6503	SO:0001583	missense	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9955643C>T	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1231C>T	3.37:g.9955643C>T	ENSP00000373325:p.Arg411Trp					CIDEC_uc003bto.2_Intron|IL17RE_uc003btw.2_Missense_Mutation_p.R411W|IL17RE_uc003btx.2_Missense_Mutation_p.R295W|IL17RE_uc010hcq.2_Missense_Mutation_p.R411W|IL17RE_uc003bty.2_RNA	p.R411W	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	14	1348	+			411			Extracellular (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	ENST00000383814.3	37	c.1231C>T	CCDS2589.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318437	0.40996	0.0	1.16E-4	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000441648	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.05	3.11	0.35812	.	0.494328	0.17602	N	0.168372	T	0.07143	0.0181	N	0.08118	0	0.25339	N	0.988962	P;P	0.51653	0.932;0.947	B;B	0.36766	0.055;0.232	T	0.17289	-1.0374	10	0.59425	D	0.04	-7.7839	8.134	0.31043	0.1785:0.649:0.1725:0.0	.	411;411	Q8NFR9-3;Q8NFR9	.;I17RE_HUMAN	W	444;411;411;411;294	ENSP00000404916:R444W;ENSP00000295980:R411W;ENSP00000373325:R411W;ENSP00000388086:R411W	ENSP00000295980:R411W	R	+	1	2	IL17RE	9930643	0.978000	0.34361	1.000000	0.80357	0.150000	0.21749	0.831000	0.27476	1.300000	0.44818	0.561000	0.74099	CGG		PASS	0.577	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		85	20	85	20	---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14862055	14862055	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:14862055G>T	ENST00000285046.5	+	1	1587	c.1477G>T	c.(1477-1479)Gtc>Ttc	p.V493F	FGD5_ENST00000543601.1_Missense_Mutation_p.V252F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	493					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.V493F(1)|p.V252F(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGCCGGCTATGTCCCAGAAAC	0.612																																						uc003bzc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1477-1479)GTC>TTC		FYVE, RhoGEF and PH domain containing 5							38.0	42.0	41.0					3																	14862055		1940	4118	6058	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862055G>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1477G>T	3.37:g.14862055G>T	ENSP00000285046:p.Val493Phe					FGD5_uc011avk.1_Missense_Mutation_p.V493F	p.V493F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1587	+			493					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1477G>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075443	0.76415	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	D;D	0.84223	-1.82;-1.62	4.86	4.86	0.63082	.	0.000000	0.48286	D	0.000200	D	0.92179	0.7520	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93263	0.6645	10	0.87932	D	0	-35.8913	18.0079	0.89214	0.0:0.0:1.0:0.0	.	252;493	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	F	493;252	ENSP00000285046:V493F;ENSP00000445949:V252F	ENSP00000285046:V493F	V	+	1	0	FGD5	14837059	1.000000	0.71417	0.950000	0.38849	0.373000	0.29922	9.280000	0.95786	2.254000	0.74563	0.650000	0.86243	GTC		PASS	0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		31	10	31	10	---	---	---	---
UBE2E2	7325	broad.mit.edu	37	3	23541127	23541127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:23541127G>T	ENST00000396703.1	+	4	436	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	UBE2E2_ENST00000425792.1_Nonsense_Mutation_p.E86*	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	86					ISG15-protein conjugation (GO:0032020)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)		ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.E86*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						CAACATTTATGAATGGAGGTC	0.383																																					GBM(85;1941 2083 9456)	uc003ccg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(256-258)GAA>TAA		ubiquitin-conjugating enzyme E2E 2							104.0	97.0	100.0					3																	23541127		2203	4300	6503	SO:0001587	stop_gained	7325				ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity	g.chr3:23541127G>T	AK057886	CCDS2637.1	3p24.2	2011-05-19	2011-05-19		ENSG00000182247	ENSG00000182247		"""Ubiquitin-conjugating enzymes E2"""	12478	protein-coding gene	gene with protein product		602163	"""ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)"""			9371400	Standard	NM_152653		Approved	UbcH8, FLJ25157	uc003ccg.2	Q96LR5	OTTHUMG00000130482	ENST00000396703.1:c.256G>T	3.37:g.23541127G>T	ENSP00000379931:p.Glu86*					UBE2E2_uc010hfc.2_Intron	p.E86*	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN			4	436	+			86						Nonsense_Mutation	SNP	ENST00000396703.1	37	c.256G>T	CCDS2637.1	.	.	.	.	.	.	.	.	.	.	G	39	7.381973	0.98248	.	.	ENSG00000182247	ENST00000425792;ENST00000452894;ENST00000396703	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7502	0.96265	0.0:0.0:1.0:0.0	.	.	.	.	X	86;110;86	.	ENSP00000379931:E86X	E	+	1	0	UBE2E2	23516131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.823000	0.99369	2.760000	0.94817	0.655000	0.94253	GAA		PASS	0.383	UBE2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252881.2	NM_152653		11	13	11	13	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31871714	31871714	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:31871714T>C	ENST00000396556.2	-	4	669	c.547A>G	c.(547-549)Agc>Ggc	p.S183G	OSBPL10_ENST00000438237.2_Intron|OSBPL10_ENST00000467647.1_5'Flank	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	183					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.S183G(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTTCGGGAGCTTGGAGCACTC	0.502																																						uc003cev.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(547-549)AGC>GGC		oxysterol-binding protein-like protein 10							53.0	53.0	53.0					3																	31871714		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31871714T>C	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.547A>G	3.37:g.31871714T>C	ENSP00000379804:p.Ser183Gly					OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.1_Intron	p.S183G	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	5	928	-			183					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.547A>G	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.622420	0.28889	.	.	ENSG00000144645	ENST00000396556	T	0.47869	0.83	5.54	0.0078	0.14072	.	1.189990	0.05582	N	0.573145	T	0.28732	0.0712	N	0.13235	0.315	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.09100	-1.0690	10	0.37606	T	0.19	-9.8133	4.6517	0.12598	0.2922:0.2112:0.0:0.4966	.	183	Q9BXB5	OSB10_HUMAN	G	183	ENSP00000379804:S183G	ENSP00000379804:S183G	S	-	1	0	OSBPL10	31846718	1.000000	0.71417	0.992000	0.48379	0.870000	0.49936	1.135000	0.31454	-0.177000	0.10690	-1.447000	0.01057	AGC		PASS	0.502	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			4	9	4	9	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37340341	37340341	+	Missense_Mutation	SNP	G	G	T	rs576248585		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:37340341G>T	ENST00000361924.2	+	8	1206	c.832G>T	c.(832-834)Gta>Tta	p.V278L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.V300L|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	278	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.V278L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGGAACTTCTGTAAAAACACT	0.388																																						uc003cgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(832-834)GTA>TTA		golgi autoantigen, golgin subfamily a, 4							95.0	95.0	95.0					3																	37340341		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37340341G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.832G>T	3.37:g.37340341G>T	ENSP00000354486:p.Val278Leu					GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Missense_Mutation_p.V300L|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.V159L	p.V278L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			8	1136	+			278			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.832G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962009	0.34659	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.22	2.0	0.26442	.	0.452303	0.16475	N	0.212784	T	0.13628	0.0330	N	0.08118	0	0.09310	N	0.99999	B;B;B	0.13145	0.0;0.0;0.007	B;B;B	0.11329	0.0;0.0;0.006	T	0.24728	-1.0152	10	0.27785	T	0.31	.	6.4131	0.21702	0.1493:0.0:0.6696:0.1812	.	278;300;278	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	L	278;300;283;149	ENSP00000354486:V278L;ENSP00000349305:V300L;ENSP00000387633:V283L;ENSP00000405842:V149L	ENSP00000349305:V300L	V	+	1	0	GOLGA4	37315345	0.933000	0.31639	0.737000	0.30932	0.722000	0.41435	1.336000	0.33850	0.234000	0.21139	0.643000	0.83706	GTA		PASS	0.388	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		29	12	29	12	---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44685539	44685539	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:44685539C>G	ENST00000396058.1	+	5	3084	c.2917C>G	c.(2917-2919)Ctt>Gtt	p.L973V	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.L973V			O14709	ZN197_HUMAN	zinc finger protein 197	973					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.L973V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAGAAAAAACCTTACTGTACA	0.373																																						uc003cnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2917-2919)CTT>GTT		zinc finger protein 197 isoform 1							59.0	62.0	61.0					3																	44685539		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44685539C>G	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2917C>G	3.37:g.44685539C>G	ENSP00000379370:p.Leu973Val					ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	p.L973V	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	6	3123	+			973			C2H2-type 22.		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.2917C>G	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167266	0.38315	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.12255	2.7;2.7	4.07	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32823	0.0842	M	0.74389	2.26	0.29902	N	0.824312	D	0.71674	0.998	D	0.77004	0.989	T	0.12656	-1.0539	9	0.62326	D	0.03	.	7.8006	0.29172	0.1609:0.7494:0.0:0.0897	.	973	O14709	ZN197_HUMAN	V	973	ENSP00000345809:L973V;ENSP00000379370:L973V	ENSP00000345809:L973V	L	+	1	0	ZNF197	44660543	0.142000	0.22610	0.980000	0.43619	0.985000	0.73830	0.826000	0.27407	0.450000	0.26774	0.557000	0.71058	CTT		PASS	0.373	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		15	24	15	24	---	---	---	---
CLEC3B	7123	broad.mit.edu	37	3	45077309	45077309	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:45077309G>C	ENST00000296130.4	+	3	682	c.502G>C	c.(502-504)Ggc>Cgc	p.G168R	CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA|CLEC3B_ENST00000428034.1_Missense_Mutation_p.G126R	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	168	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)	p.G168R(1)		endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	ACCCGATGGCGGCAAGACCGA	0.652																																					GBM(139;1487 3263 30871)	uc003cok.3																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)GGC>CGC		C-type lectin domain family 3, member B	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	41.0	40.0					3																	45077309		2202	4296	6498	SO:0001583	missense	7123				skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45077309G>C		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.502G>C	3.37:g.45077309G>C	ENSP00000296130:p.Gly168Arg					CLEC3B_uc003col.2_Missense_Mutation_p.G126R	p.G168R	NM_003278	NP_003269	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	3	598	+			168			C-type lectin.		Q6FGX6	Missense_Mutation	SNP	ENST00000296130.4	37	c.502G>C	CCDS2726.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343447	0.61073	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.19394	2.15;2.15	4.38	4.38	0.52667	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.055195	0.64402	D	0.000001	T	0.49558	0.1564	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55237	-0.8172	10	0.49607	T	0.09	-23.3689	17.2767	0.87118	0.0:0.0:1.0:0.0	.	168	P05452	TETN_HUMAN	R	168;126	ENSP00000296130:G168R;ENSP00000396013:G126R	ENSP00000296130:G168R	G	+	1	0	CLEC3B	45052313	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	5.194000	0.65125	2.148000	0.66965	0.561000	0.74099	GGC		PASS	0.652	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1	NM_003278		9	26	9	26	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48677666	48677666	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:48677666C>A	ENST00000164024.4	-	34	9632	c.9352G>T	c.(9352-9354)Ggc>Tgc	p.G3118C	CELSR3_ENST00000544264.1_Missense_Mutation_p.G3123C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3118					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G3118C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGTGCTGCCCCGATCTTTG	0.672																																						uc003cul.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(9352-9354)GGC>TGC		cadherin EGF LAG seven-pass G-type receptor 3							34.0	38.0	37.0					3																	48677666		2202	4294	6496	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677666C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9352G>T	3.37:g.48677666C>A	ENSP00000164024:p.Gly3118Cys					CELSR3_uc003cuf.1_Missense_Mutation_p.G3216C|CELSR3_uc010hkf.2_Missense_Mutation_p.G408C|CELSR3_uc010hkg.2_Missense_Mutation_p.G1101C	p.G3118C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	34	9633	-			3118			Cytoplasmic (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9352G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722575	0.48728	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70869	-0.52;-0.52	4.72	4.72	0.59763	.	.	.	.	.	T	0.69251	0.3090	N	0.24115	0.695	0.38174	D	0.939421	P;P;D	0.69078	0.911;0.856;0.997	P;B;P	0.56865	0.494;0.299;0.808	T	0.73757	-0.3882	9	0.48119	T	0.1	.	13.5081	0.61495	0.1569:0.843:0.0:0.0	.	3123;3118;3216	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	C	3118;3123	ENSP00000164024:G3118C;ENSP00000445694:G3123C	ENSP00000164024:G3118C	G	-	1	0	CELSR3	48652670	0.998000	0.40836	1.000000	0.80357	0.513000	0.34164	1.929000	0.40114	2.161000	0.67846	0.484000	0.47621	GGC		PASS	0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		23	11	23	11	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48677681	48677681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:48677681C>A	ENST00000164024.4	-	34	9617	c.9337G>T	c.(9337-9339)Gag>Tag	p.E3113*	CELSR3_ENST00000544264.1_Nonsense_Mutation_p.E3118*	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3113					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E3113*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTTTGGGCTCCAGTCGGCCT	0.672																																						uc003cul.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(9337-9339)GAG>TAG		cadherin EGF LAG seven-pass G-type receptor 3							38.0	42.0	40.0					3																	48677681		2202	4294	6496	SO:0001587	stop_gained	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677681C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9337G>T	3.37:g.48677681C>A	ENSP00000164024:p.Glu3113*					CELSR3_uc003cuf.1_Nonsense_Mutation_p.E3211*|CELSR3_uc010hkf.2_Nonsense_Mutation_p.E403*|CELSR3_uc010hkg.2_Nonsense_Mutation_p.E1096*	p.E3113*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	34	9618	-			3113			Cytoplasmic (Potential).		O75092	Nonsense_Mutation	SNP	ENST00000164024.4	37	c.9337G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	50	16.141413	0.99855	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.1919	0.37204	0.0:0.8601:0.0:0.1399	.	.	.	.	X	3113;3118	.	ENSP00000164024:E3113X	E	-	1	0	CELSR3	48652685	0.992000	0.36948	0.996000	0.52242	0.276000	0.26787	5.107000	0.64603	2.161000	0.67846	0.484000	0.47621	GAG		PASS	0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		31	9	31	9	---	---	---	---
FEZF2	55079	broad.mit.edu	37	3	62358019	62358019	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:62358019C>A	ENST00000283268.3	-	2	819	c.525G>T	c.(523-525)ctG>ctT	p.L175L	FEZF2_ENST00000475839.1_Silent_p.L175L|FEZF2_ENST00000486811.1_Silent_p.L175L	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	175					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.L175L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGGTCGAGTCCAGGTAGTTGA	0.701																																					NSCLC(170;1772 2053 12525 15604 23984)	uc003dlh.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(523-525)CTG>CTT		FEZ family zinc finger 2							17.0	23.0	21.0					3																	62358019		2200	4286	6486	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62358019C>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.525G>T	3.37:g.62358019C>A						FEZF2_uc003dli.2_Silent_p.L175L	p.L175L	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	1	732	-		Lung SC(41;0.0262)	175					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.525G>T	CCDS2897.1																																																																																				PASS	0.701	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		7	4	7	4	---	---	---	---
UBA3	9039	broad.mit.edu	37	3	69112255	69112255	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:69112255C>A	ENST00000361055.4	-	9	625	c.571G>T	c.(571-573)Gat>Tat	p.D191Y	UBA3_ENST00000540295.1_Missense_Mutation_p.D14Y|UBA3_ENST00000349511.4_Missense_Mutation_p.D177Y|UBA3_ENST00000415609.2_Missense_Mutation_p.D150Y	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	191					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)	p.D191Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GAGCTTGGATCTAAGACACCA	0.403																																						uc003dno.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(571-573)GAT>TAT		ubiquitin-activating enzyme 3 isoform 1							77.0	78.0	78.0					3																	69112255		2203	4300	6503	SO:0001583	missense	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69112255C>A	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.571G>T	3.37:g.69112255C>A	ENSP00000354340:p.Asp191Tyr					UBA3_uc003dnq.2_Missense_Mutation_p.D177Y|UBA3_uc011bfy.1_Missense_Mutation_p.D14Y|UBA3_uc011bfz.1_Missense_Mutation_p.D14Y	p.D191Y	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	9	591	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	191					A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	c.571G>T	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316100	0.81469	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.64	5.64	0.86602	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.092689	0.64402	D	0.000001	T	0.58878	0.2153	M	0.82630	2.6	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.74023	0.959;0.982	T	0.63427	-0.6640	10	0.72032	D	0.01	-19.3039	15.2157	0.73264	0.0:0.8598:0.1402:0.0	.	177;191	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	Y	150;191;177;14	ENSP00000400294:D150Y;ENSP00000354340:D191Y;ENSP00000340041:D177Y;ENSP00000440085:D14Y	ENSP00000340041:D177Y	D	-	1	0	UBA3	69194945	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.981000	0.70524	2.650000	0.89964	0.650000	0.86243	GAT		PASS	0.403	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		34	12	34	12	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74411136	74411136	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:74411136C>A	ENST00000263665.6	-	10	1296	c.1269G>T	c.(1267-1269)gtG>gtT	p.V423V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	423	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V423V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAGGCTGCCCACCTGCACCT	0.488																																						uc003dpm.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1267-1269)GTG>GTT		contactin 3 precursor							75.0	79.0	78.0					3																	74411136		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411136C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1269G>T	3.37:g.74411136C>A							p.V423V	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1349	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	423			Ig-like C2-type 5.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1269G>T	CCDS33790.1																																																																																				PASS	0.488	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		22	15	22	15	---	---	---	---
MIR1324	100302212	broad.mit.edu	37	3	75679932	75679932	+	RNA	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:75679932G>T	ENST00000408868.1	+	0	19					NR_031714.1				microRNA 1324																		GGTGCATGAAGCCTGGTCCTG	0.557																																						hsa-mir-1324|MI0006657																			0					0															23.0	30.0	28.0					3																	75679932		1568	3571	5139			100302212							g.chr3:75679932G>T			3	2011-09-12		2008-12-18	ENSG00000221795	ENSG00000221795		"""ncRNAs / Micro RNAs"""	35377	non-coding RNA	RNA, micro				MIRN1324			Standard	NR_031714		Approved	hsa-mir-1324	uc021xar.1				3.37:g.75679932G>T																+									RNA	SNP	ENST00000408868.1	37	c.19G>T																																																																																					PASS	0.557	MIR1324-201	KNOWN	basic	miRNA	miRNA		NR_031714		3	12	3	12	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78666832	78666832	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:78666832T>A	ENST00000464233.1	-	27	4348	c.4235A>T	c.(4234-4236)gAg>gTg	p.E1412V	ROBO1_ENST00000495273.1_Missense_Mutation_p.E1367V|ROBO1_ENST00000436010.2_Missense_Mutation_p.E1373V|ROBO1_ENST00000467549.1_Missense_Mutation_p.E1312V	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1412					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.E1416V(1)|p.E1367V(1)|p.E1389V(1)|p.E1412V(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)		ACCAGCATACTCTGCCGCTGC	0.507																																						uc003dqe.2																			4	Substitution - Missense(4)		lung(4)	large_intestine(2)	2						c.(4234-4236)GAG>GTG		roundabout 1 isoform a							65.0	68.0	67.0					3																	78666832		1975	4151	6126	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.chr3:78666832T>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.4235A>T	3.37:g.78666832T>A	ENSP00000420321:p.Glu1412Val					ROBO1_uc003dqb.2_Missense_Mutation_p.E1373V|ROBO1_uc003dqc.2_Missense_Mutation_p.E1312V|ROBO1_uc003dqd.2_Missense_Mutation_p.E1367V|ROBO1_uc010hoh.2_Missense_Mutation_p.E604V|ROBO1_uc011bgl.1_Missense_Mutation_p.E984V	p.E1412V	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)	27	4443	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1412			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4235A>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423870	0.43020	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.67171	-0.15;-0.18;-0.2;-0.25	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	L	0.27053	0.805	0.80722	D	1	D;P;P;P;P	0.76494	0.999;0.495;0.651;0.615;0.628	D;B;B;B;B	0.80764	0.994;0.041;0.115;0.085;0.137	T	0.70594	-0.4829	9	.	.	.	.	16.2237	0.82280	0.0:0.0:0.0:1.0	.	1376;1412;1367;1312;1373	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	V	1373;1367;1412;1367;1312;1416	ENSP00000406043:E1373V;ENSP00000420321:E1412V;ENSP00000420637:E1367V;ENSP00000417992:E1312V	.	E	-	2	0	ROBO1	78749522	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	7.655000	0.83696	2.289000	0.77006	0.482000	0.46254	GAG		PASS	0.507	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		26	13	26	13	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89259571	89259571	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:89259571C>A	ENST00000336596.2	+	3	940	c.715C>A	c.(715-717)Cct>Act	p.P239T	EPHA3_ENST00000452448.2_Missense_Mutation_p.P239T|EPHA3_ENST00000494014.1_Missense_Mutation_p.P239T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	239	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P239T(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGAGGAAGATCCTCCAAGGAT	0.488										TSP Lung(6;0.00050)																												uc003dqy.2																			2	Substitution - Missense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(715-717)CCT>ACT		ephrin receptor EphA3 isoform a precursor							186.0	178.0	181.0					3																	89259571		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259571C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.715C>A	3.37:g.89259571C>A	ENSP00000337451:p.Pro239Thr	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.P239T|EPHA3_uc010hon.1_RNA	p.P239T	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	940	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	239			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.715C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	1.570	-0.534299	0.04082	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.72167	-0.62;2.8;-0.63	5.93	5.06	0.68205	.	0.178675	0.49305	D	0.000141	T	0.60894	0.2304	L	0.31157	0.91	0.45354	D	0.998347	B;B	0.27559	0.181;0.143	B;B	0.29077	0.054;0.098	T	0.55798	-0.8084	9	.	.	.	.	16.8175	0.85738	0.0:0.7583:0.2417:0.0	.	239;239	P29320;P29320-2	EPHA3_HUMAN;.	T	239	ENSP00000337451:P239T;ENSP00000399926:P239T;ENSP00000419190:P239T	.	P	+	1	0	EPHA3	89342261	0.969000	0.33509	0.998000	0.56505	0.962000	0.63368	1.278000	0.33179	1.492000	0.48499	0.655000	0.94253	CCT		PASS	0.488	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		80	32	80	32	---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98001811	98001811	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:98001811A>T	ENST00000355273.2	+	1	80	c.80A>T	c.(79-81)gAg>gTg	p.E27V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E27V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TATCAGCCAGAGTGGAAAATG	0.423																																						uc003dsj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(79-81)GAG>GTG		olfactory receptor, family 5, subfamily H,							273.0	255.0	261.0					3																	98001811		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001811A>T		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.80A>T	3.37:g.98001811A>T	ENSP00000347418:p.Glu27Val						p.E27V	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	80	+			27			Extracellular (Potential).		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.80A>T	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	A	9.611	1.131315	0.21041	.	.	ENSG00000197938	ENST00000355273	T	0.00446	7.39	3.2	-0.817	0.10836	.	0.899045	0.09153	U	0.841216	T	0.00384	0.0012	M	0.64567	1.98	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.34900	-0.9810	10	0.72032	D	0.01	.	6.6669	0.23044	0.632:0.0:0.368:0.0	.	27	Q8NGV7	OR5H2_HUMAN	V	27	ENSP00000347418:E27V	ENSP00000347418:E27V	E	+	2	0	OR5H2	99484501	0.005000	0.15991	0.000000	0.03702	0.016000	0.09150	1.339000	0.33885	-0.245000	0.09625	0.443000	0.29094	GAG		PASS	0.423	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			94	103	94	103	---	---	---	---
OR5K1	26339	broad.mit.edu	37	3	98188985	98188985	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:98188985T>A	ENST00000332650.5	+	1	662	c.565T>A	c.(565-567)Tgt>Agt	p.C189S		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C189S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGACTCTCTTGTGTTGATCC	0.348																																						uc003dsm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(565-567)TGT>AGT		olfactory receptor, family 5, subfamily K,							220.0	224.0	223.0					3																	98188985		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188985T>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.565T>A	3.37:g.98188985T>A	ENSP00000373193:p.Cys189Ser						p.C189S	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	565	+			189			Extracellular (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.565T>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591413	0.46214	.	.	ENSG00000232382	ENST00000332650	T	0.00450	7.36	5.18	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.144747	0.32357	N	0.006201	T	0.01287	0.0042	M	0.85099	2.735	0.34694	D	0.726073	D	0.89917	1.0	D	0.97110	1.0	T	0.46303	-0.9201	10	0.72032	D	0.01	-9.0946	11.4804	0.50322	0.0:0.0806:0.0:0.9194	.	189	Q8NHB7	OR5K1_HUMAN	S	189	ENSP00000373193:C189S	ENSP00000373193:C189S	C	+	1	0	OR5K1	99671675	0.891000	0.30450	0.997000	0.53966	0.404000	0.30871	1.906000	0.39887	0.282000	0.22254	-1.450000	0.01041	TGT		PASS	0.348	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			51	123	51	123	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	101038473	101038473	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:101038473C>A	ENST00000193391.7	-	2	476	c.289G>T	c.(289-291)Gtt>Ttt	p.V97F		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	97					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.V97F(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GCCTCTGCAACACTTTCATCT	0.413																																						uc003duq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(289-291)GTT>TTT		interphotoreceptor matrix proteoglycan 2							148.0	144.0	146.0					3																	101038473		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101038473C>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.289G>T	3.37:g.101038473C>A	ENSP00000193391:p.Val97Phe					IMPG2_uc011bhe.1_5'UTR	p.V97F	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			2	492	-			97			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.289G>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442835	0.63067	.	.	ENSG00000081148	ENST00000193391	T	0.80393	-1.37	5.42	2.63	0.31362	.	0.167774	0.41396	D	0.000894	T	0.72179	0.3428	L	0.60455	1.87	0.32178	N	0.580779	P	0.37441	0.595	B	0.31016	0.123	T	0.76055	-0.3099	10	0.87932	D	0	-6.9271	8.8567	0.35231	0.0:0.7024:0.0:0.2976	.	97	Q9BZV3	IMPG2_HUMAN	F	97	ENSP00000193391:V97F	ENSP00000193391:V97F	V	-	1	0	IMPG2	102521163	0.038000	0.19896	0.888000	0.34837	0.949000	0.60115	-0.218000	0.09240	0.667000	0.31107	0.563000	0.77884	GTT		PASS	0.413	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			48	105	48	105	---	---	---	---
CBLB	868	broad.mit.edu	37	3	105389121	105389121	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:105389121G>C	ENST00000264122.4	-	18	2966	c.2645C>G	c.(2644-2646)aCt>aGt	p.T882S	CBLB_ENST00000407712.1_Missense_Mutation_p.T97S|CBLB_ENST00000394027.3_Missense_Mutation_p.T860S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	882	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T882S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTTCTGTTAGTTTTGACATT	0.368			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(2644-2646)ACT>AGT		Cas-Br-M (murine) ecotropic retroviral							154.0	135.0	142.0					3																	105389121		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105389121G>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2645C>G	3.37:g.105389121G>C	ENSP00000264122:p.Thr882Ser					CBLB_uc003dwa.2_Missense_Mutation_p.T97S|CBLB_uc011bhi.1_Missense_Mutation_p.T860S	p.T882S	NM_170662	NP_733762	Q13191	CBLB_HUMAN			18	2967	-			882			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2645C>G	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	6.108	0.388225	0.11581	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;D;T;D	0.82526	-0.95;-1.6;-0.95;-1.62	5.72	5.72	0.89469	.	0.655408	0.17076	N	0.187965	T	0.73598	0.3607	N	0.12182	0.205	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.68062	-0.5508	10	0.87932	D	0	-3.4844	18.4242	0.90604	0.0:0.0:1.0:0.0	.	860;882;860	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	S	221;882;97;860	ENSP00000377598:T221S;ENSP00000264122:T882S;ENSP00000384170:T97S;ENSP00000377595:T860S	ENSP00000264122:T882S	T	-	2	0	CBLB	106871811	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.338000	0.72963	2.865000	0.98341	0.655000	0.94253	ACT		PASS	0.368	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		26	45	26	45	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111603485	111603485	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:111603485T>C	ENST00000431670.2	+	2	972	c.561T>C	c.(559-561)gaT>gaC	p.D187D	PHLDB2_ENST00000481953.1_Silent_p.D187D|PHLDB2_ENST00000393923.3_Silent_p.D214D|PHLDB2_ENST00000393925.3_Silent_p.D187D|PHLDB2_ENST00000478922.1_Silent_p.D187D|PHLDB2_ENST00000477695.1_Silent_p.D187D|PHLDB2_ENST00000412622.1_Silent_p.D187D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	187						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.D187D(2)|p.D214D(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCCTGAGTGATGCTGGCCCGC	0.562																																						uc010hqa.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|skin(2)	6						c.(559-561)GAT>GAC		pleckstrin homology-like domain, family B,							54.0	54.0	54.0					3																	111603485		2203	4299	6502	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603485T>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.561T>C	3.37:g.111603485T>C						PHLDB2_uc003dyc.2_Silent_p.D214D|PHLDB2_uc003dyd.2_Silent_p.D187D|PHLDB2_uc003dyg.2_Silent_p.D187D|PHLDB2_uc003dyh.2_Silent_p.D187D|PHLDB2_uc003dye.3_Silent_p.D187D|PHLDB2_uc003dyf.3_Silent_p.D187D	p.D187D	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	972	+			187					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.561T>C	CCDS46886.1																																																																																				PASS	0.562	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		27	27	27	27	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112328845	112328845	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:112328845C>T	ENST00000206423.3	-	6	3358	c.2405G>A	c.(2404-2406)aGt>aAt	p.S802N	CCDC80_ENST00000439685.2_Missense_Mutation_p.S802N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	802					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.S802N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CGCCTGACCACTGAGGGCAGA	0.498																																						uc003dzf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2404-2406)AGT>AAT		steroid-sensitive protein 1 precursor							130.0	114.0	119.0					3																	112328845		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112328845C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2405G>A	3.37:g.112328845C>T	ENSP00000206423:p.Ser802Asn					CCDC80_uc011bhv.1_Missense_Mutation_p.S802N|CCDC80_uc003dzg.2_Missense_Mutation_p.S802N|CCDC80_uc003dzh.1_Missense_Mutation_p.S802N	p.S802N	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			6	2623	-			802					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.2405G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256542	0.22965	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594;ENST00000479368	T;T;T	0.41758	0.99;0.99;0.99	5.75	3.82	0.43975	.	0.317104	0.39615	N	0.001311	T	0.18130	0.0435	N	0.04203	-0.255	0.28329	N	0.921888	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.11329	0.003;0.006;0.006	T	0.16867	-1.0388	10	0.09084	T	0.74	-14.224	10.0138	0.42003	0.0:0.6128:0.311:0.0763	.	813;802;802	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	N	802;802;430;80	ENSP00000206423:S802N;ENSP00000411814:S802N;ENSP00000418188:S80N	ENSP00000206423:S802N	S	-	2	0	CCDC80	113811535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.609000	0.24238	1.543000	0.49345	0.650000	0.86243	AGT		PASS	0.498	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		19	30	19	30	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114069245	114069245	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:114069245C>A	ENST00000474710.1	-	4	1858	c.1680G>T	c.(1678-1680)ctG>ctT	p.L560L	ZBTB20_ENST00000471418.1_Silent_p.L487L|ZBTB20_ENST00000481632.1_Silent_p.L487L|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.L487L|ZBTB20_ENST00000464560.1_Silent_p.L487L|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.L487L|ZBTB20_ENST00000393785.2_Silent_p.L487L	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	560						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.L487L(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGATGAGGCCAGGGGCTGTG	0.602																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1678-1680)CTG>CTT		zinc finger and BTB domain containing 20 isoform							93.0	97.0	96.0					3																	114069245		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069245C>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1680G>T	3.37:g.114069245C>A						ZBTB20_uc003ebj.2_Silent_p.L487L|ZBTB20_uc010hqp.2_Silent_p.L487L|ZBTB20_uc003ebk.2_Silent_p.L487L|ZBTB20_uc003ebl.2_Silent_p.L487L|ZBTB20_uc003ebm.2_Silent_p.L487L|ZBTB20_uc003ebn.2_Silent_p.L487L|uc003ebo.1_5'Flank	p.L560L	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1860	-			560					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1680G>T	CCDS54626.1																																																																																				PASS	0.602	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		40	72	40	72	---	---	---	---
POGLUT1	56983	broad.mit.edu	37	3	119209540	119209540	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:119209540G>T	ENST00000295588.4	+	9	1024	c.940G>T	c.(940-942)Gtc>Ttc	p.V314F		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	314					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)	p.V314F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTATATCCCAGTCAAAACAGA	0.423																																						uc003ecm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)GTC>TTC		KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor							154.0	146.0	149.0					3																	119209540		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119209540G>T	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.940G>T	3.37:g.119209540G>T	ENSP00000295588:p.Val314Phe					KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.V155F	p.V314F	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN		GBM - Glioblastoma multiforme(114;0.233)	9	1024	+			314					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.940G>T	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071169	0.93950	.	.	ENSG00000163389	ENST00000295588	T	0.27720	1.65	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.67517	2.055	0.80722	D	1	D	0.63046	0.992	D	0.72625	0.978	T	0.48352	-0.9043	10	0.51188	T	0.08	-15.0989	16.3599	0.83257	0.0:0.0:1.0:0.0	.	314	Q8NBL1	PGLT1_HUMAN	F	314	ENSP00000295588:V314F	ENSP00000295588:V314F	V	+	1	0	POGLUT1	120692230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.127000	0.77210	2.937000	0.99478	0.650000	0.86243	GTC		PASS	0.423	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		48	103	48	103	---	---	---	---
RABL3	285282	broad.mit.edu	37	3	120417269	120417269	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:120417269C>A	ENST00000273375.3	-	5	564		c.e5+1		RABL3_ENST00000491398.1_Splice_Site|RABL3_ENST00000483733.1_Splice_Site	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3						small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AAAATACATACCAAATTAATT	0.338																																						uc003edx.2																			1	Unknown(1)		lung(1)		0						c.e5+1		RAB, member of RAS oncogene family-like 3							114.0	123.0	120.0					3																	120417269		2203	4296	6499	SO:0001630	splice_region_variant	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120417269C>A	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.534+1G>T	3.37:g.120417269C>A							p.L178_splice	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	5	564	-								Q8WUD3	Splice_Site	SNP	ENST00000273375.3	37	c.534_splice	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536032	0.85812	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9037	0.92453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RABL3	121899959	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.364000	0.79526	2.699000	0.92147	0.650000	0.86243	.		PASS	0.338	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825	Intron	77	137	77	137	---	---	---	---
KLF15	28999	broad.mit.edu	37	3	126062660	126062660	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:126062660C>T	ENST00000296233.3	-	3	1391	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	387					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.E387E(1)		endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CGAACTTCTTCTCGCACACAG	0.657																																						uc011bkk.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1159-1161)GAG>GAA		Kruppel-like factor 15							53.0	46.0	49.0					3																	126062660		2203	4300	6503	SO:0001819	synonymous_variant	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126062660C>T	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1161G>A	3.37:g.126062660C>T							p.E387E	NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	3	1343	-			387			C2H2-type 3.			Silent	SNP	ENST00000296233.3	37	c.1161G>A	CCDS3036.1																																																																																				PASS	0.657	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		10	17	10	17	---	---	---	---
KLF15	28999	broad.mit.edu	37	3	126070882	126070882	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:126070882G>A	ENST00000296233.3	-	2	1114	c.884C>T	c.(883-885)cCc>cTc	p.P295L	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	295					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.P295L(1)		endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		AGGCCCCAGGGGTCCCGATCC	0.607																																						uc011bkk.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(883-885)CCC>CTC		Kruppel-like factor 15							29.0	28.0	28.0					3																	126070882		2174	4259	6433	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126070882G>A	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.884C>T	3.37:g.126070882G>A	ENSP00000296233:p.Pro295Leu						p.P295L	NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	1066	-			295						Missense_Mutation	SNP	ENST00000296233.3	37	c.884C>T	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859783	0.32884	.	.	ENSG00000163884	ENST00000296233	T	0.09163	3.01	5.24	4.31	0.51392	.	0.739449	0.13639	N	0.373127	T	0.09818	0.0241	L	0.36672	1.1	0.09310	N	0.999998	B	0.20887	0.049	B	0.19666	0.026	T	0.12578	-1.0542	10	0.30854	T	0.27	.	10.7774	0.46358	0.0:0.2443:0.7557:0.0	.	295	Q9UIH9	KLF15_HUMAN	L	295	ENSP00000296233:P295L	ENSP00000296233:P295L	P	-	2	0	KLF15	127553572	0.999000	0.42202	0.998000	0.56505	0.922000	0.55478	2.802000	0.47916	2.625000	0.88918	0.486000	0.48141	CCC		PASS	0.607	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		2	4	2	4	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126229583	126229584	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:126229583_126229584CC>AA	ENST00000290868.2	-	2	233_234	c.180_181GG>TT	c.(178-183)ctGGcc>ctTTcc	p.A61S	UROC1_ENST00000383579.3_Missense_Mutation_p.A61S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	61					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.A61S(4)|p.L60L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AACTCTGGGGCCAGCAGCTCCT	0.619																																						uc003eiz.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)	1						c.(181-183)GCC>TCC|c.(178-180)CTG>CTT		urocanase domain containing 1 isoform 1																																				SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126229583C>A|g.chr3:126229584C>A	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.180_181delinsAA	3.37:g.126229583_126229584delinsAA	ENSP00000290868:p.Ala61Ser					UROC1_uc010hsi.1_Missense_Mutation_p.A61S|UROC1_uc010hsi.1_Silent_p.L60L	p.A61S|p.L60L	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	2	213|212	-			61|60					E9PE13|Q14C64|Q68CJ7	Missense_Mutation|Silent	SNP	ENST00000290868.2	37	c.181G>T|c.180G>T	CCDS3038.1																																																																																				PASS	0.619	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		14|13	21	13	21	---	---	---	---
GATA2	2624	broad.mit.edu	37	3	128204697	128204697	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:128204697G>A	ENST00000341105.2	-	3	1075	c.744C>T	c.(742-744)acC>acT	p.T248T	GATA2_ENST00000430265.2_Silent_p.T248T|GATA2_ENST00000487848.1_Silent_p.T248T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	248					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T248T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGGAGGGGTAGGTGGGGATGG	0.647			Mis		AML(CML blast transformation)																																	uc003ekm.3				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15						c.(742-744)ACC>ACT		GATA binding protein 2 isoform 1							84.0	82.0	83.0					3																	128204697		2203	4300	6503	SO:0001819	synonymous_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128204697G>A	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.744C>T	3.37:g.128204697G>A						GATA2_uc003ekn.3_Silent_p.T248T|GATA2_uc003eko.2_Silent_p.T248T	p.T248T	NM_001145661	NP_001139133	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	4	1179	-			248					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.744C>T	CCDS3049.1																																																																																				PASS	0.647	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		18	23	18	23	---	---	---	---
RAB7A	7879	broad.mit.edu	37	3	128526389	128526389	+	Missense_Mutation	SNP	G	G	T	rs368804888		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:128526389G>T	ENST00000265062.3	+	5	649	c.403G>T	c.(403-405)Gcc>Tcc	p.A135S	RAB7A_ENST00000482525.1_Missense_Mutation_p.A88S|RAB7A_ENST00000485280.1_Intron	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	135					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A135S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		CTTTCAGGTGGCCACAAAGCG	0.562																																						uc003eks.1																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)GCC>TCC		RAB7, member RAS oncogene family							123.0	118.0	120.0					3																	128526389		2203	4300	6503	SO:0001583	missense	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128526389G>T	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.403G>T	3.37:g.128526389G>T	ENSP00000265062:p.Ala135Ser					RAB7A_uc010hsv.1_Missense_Mutation_p.A88S|RAB7A_uc003ekt.2_Missense_Mutation_p.A111S	p.A135S	NM_004637	NP_004628	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	5	635	+			135					A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	c.403G>T	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	G	7.454	0.643382	0.14451	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000483906	T;T;T;T	0.79940	-0.92;-1.32;-0.92;-1.1	5.07	5.07	0.68467	Small GTP-binding protein domain (1);	.	.	.	.	T	0.37265	0.0997	N	0.00121	-2.07	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.57318	-0.7832	9	0.02654	T	1	-12.1955	6.3346	0.21289	0.2133:0.0:0.7867:0.0	.	88;135	C9J8S3;P51149	.;RAB7A_HUMAN	S	135;88;135;62	ENSP00000265062:A135S;ENSP00000417668:A88S;ENSP00000417978:A135S;ENSP00000417155:A62S	ENSP00000265062:A135S	A	+	1	0	RAB7A	130009079	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.599000	0.54045	2.788000	0.95919	0.655000	0.94253	GCC		PASS	0.562	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			33	47	33	47	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130174315	130174315	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:130174315C>A	ENST00000432398.2	+	37	7089	c.6595C>A	c.(6595-6597)Caa>Aaa	p.Q2199K	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2199K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2199	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q2199K(1)|p.Q238K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TACTGAGCTACAAGAGGATTT	0.333																																						uc010htj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(6595-6597)CAA>AAA		collagen, type XXIX, alpha 1							36.0	35.0	35.0					3																	130174315		1797	4065	5862	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174315C>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6595C>A	3.37:g.130174315C>A	ENSP00000390895:p.Gln2199Lys					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.Q238K	p.Q2199K	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			37	7089	+			2199			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6595C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.188|4.188	0.033466|0.033466	0.08101|0.08101	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88201|.	-2.26;-2.35;-0.83;-0.69|.	4.38|4.38	-2.03|-2.03	0.07365|0.07365	.|.	2.621480|.	0.01746|.	N|.	0.029652|.	T|T	0.25717|0.25717	0.0626|0.0626	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B|.	0.15473|.	0.007;0.013|.	B;B|.	0.13407|.	0.007;0.009|.	T|T	0.30297|0.30297	-0.9983|-0.9983	10|5	0.23891|.	T|.	0.37|.	.|.	0.9333|0.9333	0.01340|0.01340	0.1587:0.3027:0.1552:0.3834|0.1587:0.3027:0.1552:0.3834	.|.	2199;2199|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|K	2199;2199;142;34|450	ENSP00000390895:Q2199K;ENSP00000265379:Q2199K;ENSP00000362250:Q142K;ENSP00000424968:Q34K|.	ENSP00000265379:Q2199K|.	Q|T	+|+	1|2	0|0	COL6A5|COL6A5	131657005|131657005	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.473000|-0.473000	0.06615|0.06615	-0.292000|-0.292000	0.08999|0.08999	-0.145000|-0.145000	0.13849|0.13849	CAA|ACA		PASS	0.333	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		10	19	10	19	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130292820	130292820	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:130292820G>T	ENST00000358511.6	+	7	3029	c.2998G>T	c.(2998-3000)Gat>Tat	p.D1000Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1000Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1000	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D1000Y(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGACAAAGTAGATCTTGTTTT	0.353																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2998-3000)GAT>TAT		collagen type VI alpha 6 precursor							90.0	81.0	84.0					3																	130292820		1854	4101	5955	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130292820G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2998G>T	3.37:g.130292820G>T	ENSP00000351310:p.Asp1000Tyr						p.D1000Y	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3029	+			1000			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2998G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937633	0.73557	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.93366	-3.21;-3.21	5.13	5.13	0.70059	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000028	D	0.98093	0.9371	H	0.97707	4.06	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.99521	1.0958	10	0.87932	D	0	.	18.5424	0.91033	0.0:0.0:1.0:0.0	.	1000	A6NMZ7	CO6A6_HUMAN	Y	1000	ENSP00000351310:D1000Y;ENSP00000399236:D1000Y	ENSP00000351310:D1000Y	D	+	1	0	COL6A6	131775510	1.000000	0.71417	0.141000	0.22245	0.875000	0.50365	7.439000	0.80444	2.543000	0.85770	0.313000	0.20887	GAT		PASS	0.353	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		14	19	14	19	---	---	---	---
ACKR4	51554	broad.mit.edu	37	3	132319692	132319693	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:132319692_132319693GG>TT	ENST00000249887.2	+	2	547_548	c.451_452GG>TT	c.(451-453)GGa>TTa	p.G151L	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	151					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.G151*(1)|p.G151V(1)|p.G151L(1)									ATCAGGAGTGGGAAAACCATGC	0.45																																						uc003eow.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)		0						c.(451-453)GGA>TGA|c.(451-453)GGA>GTA		chemokine (C-C motif) receptor-like 1																																				SO:0001583	missense	51554				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:132319692G>T|g.chr3:132319693G>T	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	Exception_encountered	3.37:g.132319692_132319693delinsTT	ENSP00000249887:p.Gly151Leu					ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Nonsense_Mutation_p.G151*|ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.G151V	p.G151*|p.G151V	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN			2	534|535	+			151			Cytoplasmic (Potential).		B2R9U7	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000249887.2	37	c.451G>T|c.452G>T	CCDS3075.1																																																																																				PASS	0.450	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		25|24	46	24	46	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133371465	133371465	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:133371465G>A	ENST00000260810.5	-	8	1062	c.931C>T	c.(931-933)Ctt>Ttt	p.L311F	TOPBP1_ENST00000511439.1_Intron	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	311					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.L311F(1)|p.L224F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACATCTGAAAGAGTACGACCT	0.308								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(931-933)CTT>TTT	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							85.0	80.0	82.0					3																	133371465		1827	4073	5900	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133371465G>A	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.931C>T	3.37:g.133371465G>A	ENSP00000260810:p.Leu311Phe						p.L311F	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			8	1063	-			311					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.931C>T	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615852	0.46631	.	.	ENSG00000163781	ENST00000260810	T	0.14640	2.49	5.7	5.7	0.88788	.	0.062515	0.64402	D	0.000004	T	0.12944	0.0314	M	0.63843	1.955	0.50039	D	0.999846	P	0.44478	0.836	B	0.36666	0.23	T	0.02109	-1.1212	10	0.36615	T	0.2	.	7.5803	0.27961	0.1195:0.0:0.7331:0.1474	.	311	Q92547	TOPB1_HUMAN	F	311	ENSP00000260810:L311F	ENSP00000260810:L311F	L	-	1	0	TOPBP1	134854155	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.051000	0.41307	2.702000	0.92279	0.655000	0.94253	CTT		PASS	0.308	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		21	39	21	39	---	---	---	---
SOX14	8403	broad.mit.edu	37	3	137484093	137484093	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:137484093C>G	ENST00000306087.1	+	1	515	c.467C>G	c.(466-468)cCc>cGc	p.P156R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	156					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P156R(1)		large_intestine(2)|lung(12)	14						GGCGAAGTGCCCCACACCTTG	0.692																																						uc003erm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(466-468)CCC>CGC		SRY-box 14							15.0	15.0	15.0					3																	137484093		2195	4285	6480	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484093C>G	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.467C>G	3.37:g.137484093C>G	ENSP00000305343:p.Pro156Arg						p.P156R	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	515	+			156					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.467C>G	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064902	0.36470	.	.	ENSG00000168875	ENST00000306087	D	0.96334	-3.98	4.57	4.57	0.56435	.	0.207411	0.42053	D	0.000775	D	0.93716	0.7992	L	0.47716	1.5	0.58432	D	0.999998	B	0.22909	0.077	B	0.17098	0.017	D	0.91390	0.5134	10	0.20519	T	0.43	.	17.5355	0.87829	0.0:1.0:0.0:0.0	.	156	O95416	SOX14_HUMAN	R	156	ENSP00000305343:P156R	ENSP00000305343:P156R	P	+	2	0	SOX14	138966783	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.576000	0.82467	2.379000	0.81126	0.407000	0.27541	CCC		PASS	0.692	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		7	5	7	5	---	---	---	---
CEP70	80321	broad.mit.edu	37	3	138289268	138289268	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:138289268C>A	ENST00000264982.3	-	6	623	c.357G>T	c.(355-357)atG>atT	p.M119I	CEP70_ENST00000481834.1_Missense_Mutation_p.M119I|CEP70_ENST00000464035.1_Missense_Mutation_p.M119I|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.M119I|CEP70_ENST00000542237.1_Missense_Mutation_p.M99I|CEP70_ENST00000489254.1_Intron	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	119					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.M119I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCACACTTTCCATAATTTGTT	0.368																																						uc003esl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(355-357)ATG>ATT		centrosomal protein 70 kDa							153.0	143.0	146.0					3																	138289268		2203	4300	6503	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138289268C>A	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.357G>T	3.37:g.138289268C>A	ENSP00000264982:p.Met119Ile					CEP70_uc011bmk.1_Missense_Mutation_p.M99I|CEP70_uc011bml.1_Missense_Mutation_p.M101I|CEP70_uc011bmm.1_Intron|CEP70_uc003esm.2_Missense_Mutation_p.M119I|CEP70_uc003esn.2_Missense_Mutation_p.M119I	p.M119I	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN			6	555	-			119			Potential.		B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.357G>T	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309226	0.40895	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035	T;T;T;T;T;T;T;T	0.46063	1.51;1.52;1.51;1.52;1.5;0.92;0.92;0.88	4.98	4.09	0.47781	.	0.284988	0.36628	N	0.002488	T	0.32556	0.0833	L	0.44542	1.39	0.27139	N	0.961707	B;B;B	0.19706	0.015;0.038;0.015	B;B;B	0.17979	0.02;0.009;0.02	T	0.10660	-1.0620	10	0.35671	T	0.21	-10.796	9.3953	0.38399	0.0:0.9011:0.0:0.0989	.	99;119;119	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	I	119;99;119;101;119;98;99;119	ENSP00000264982:M119I;ENSP00000444128:M99I;ENSP00000419231:M119I;ENSP00000419833:M101I;ENSP00000417465:M119I;ENSP00000418131:M98I;ENSP00000417819:M99I;ENSP00000419743:M119I	ENSP00000264982:M119I	M	-	3	0	CEP70	139771958	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	1.297000	0.33400	2.589000	0.87451	0.650000	0.86243	ATG		PASS	0.368	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		38	61	38	61	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138400810	138400810	+	Splice_Site	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:138400810G>A	ENST00000477593.1	-	18	2576	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	PIK3CB_ENST00000289153.2_Splice_Site_p.R835W|PIK3CB_ENST00000544716.1_Splice_Site_p.R286W			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	835	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.R835W(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGATCTCACCGAAGATCCAAA	0.348																																						uc011bmq.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(2503-2505)CGG>TGG		catalytic phosphatidylinositol 3-kinase beta							106.0	94.0	98.0					3																	138400810		2203	4300	6503	SO:0001630	splice_region_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138400810G>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2504+1C>T	3.37:g.138400810G>A						PIK3CB_uc011bmn.1_Missense_Mutation_p.R347W|PIK3CB_uc011bmo.1_Missense_Mutation_p.R286W|PIK3CB_uc011bmp.1_Missense_Mutation_p.R422W	p.R835W	NM_006219	NP_006210	P42338	PK3CB_HUMAN			17	2503	-			835			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.2503C>T	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247136	0.80024	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.78364	-1.17;-1.17;-1.17	5.37	4.49	0.54785	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.997;0.999	D	0.86229	0.1636	10	0.87932	D	0	-14.8832	13.9278	0.63972	0.0:0.0:0.8479:0.1521	.	835;422;286	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	W	835;286;835	ENSP00000418143:R835W;ENSP00000438259:R286W;ENSP00000289153:R835W	ENSP00000289153:R835W	R	-	1	2	PIK3CB	139883500	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.596000	0.61055	1.242000	0.43836	0.585000	0.79938	CGG		PASS	0.348	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		Missense_Mutation	8	15	8	15	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140282980	140282980	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:140282980C>A	ENST00000458420.3	+	16	2850	c.2660C>A	c.(2659-2661)cCc>cAc	p.P887H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	887					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.P887H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACAGTCAACCCCATGGAGGTG	0.592										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2659-2661)CCC>CAC		calsyntenin 2 precursor							117.0	109.0	112.0					3																	140282980		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140282980C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2660C>A	3.37:g.140282980C>A	ENSP00000402460:p.Pro887His	HNSCC(16;0.037)					p.P887H	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			16	2850	+			887			Cytoplasmic (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2660C>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758335	0.89843	.	.	ENSG00000158258	ENST00000458420	T	0.39056	1.1	5.65	5.65	0.86999	.	0.104089	0.64402	D	0.000002	T	0.69124	0.3076	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71945	-0.4439	9	.	.	.	-13.5696	17.2155	0.86943	0.0:1.0:0.0:0.0	.	887	Q9H4D0	CSTN2_HUMAN	H	887	ENSP00000402460:P887H	.	P	+	2	0	CLSTN2	141765670	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	CCC		PASS	0.592	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		26	41	26	41	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147108857	147108857	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:147108857C>A	ENST00000383075.3	-	4	1377	c.865G>T	c.(865-867)Ggg>Tgg	p.G289W	ZIC4_ENST00000484399.1_Missense_Mutation_p.G289W|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289W|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83W|ZIC4_ENST00000425731.3_Missense_Mutation_p.G327W|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339W	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G289W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCGAGCGCCCGTGCACCTTC	0.662																																						uc003ewd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(865-867)GGG>TGG		zinc finger protein of the cerebellum 4							32.0	40.0	38.0					3																	147108857		2193	4293	6486	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108857C>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.865G>T	3.37:g.147108857C>A	ENSP00000372553:p.Gly289Trp					ZIC4_uc003ewc.1_Missense_Mutation_p.G219W|ZIC4_uc011bno.1_Missense_Mutation_p.G339W	p.G289W	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1138	-			289					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.865G>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156573	0.78114	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.35789	2.44;2.44;2.44;2.44;2.44;1.29	5.05	4.08	0.47627	Zinc finger, C2H2 (1);	0.171210	0.28659	N	0.014572	T	0.47764	0.1463	L	0.47716	1.5	0.39814	D	0.972741	D;D	0.71674	0.998;0.998	D;D	0.64506	0.925;0.926	T	0.60454	-0.7260	9	0.66056	D	0.02	.	10.3599	0.43987	0.4522:0.5478:0.0:0.0	.	339;289	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	W	289;327;339;289;289;83	ENSP00000372553:G289W;ENSP00000397695:G327W;ENSP00000435509:G339W;ENSP00000417855:G289W;ENSP00000420775:G289W;ENSP00000418277:G83W	ENSP00000372553:G289W	G	-	1	0	ZIC4	148591547	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.495000	0.60353	2.337000	0.79520	0.462000	0.41574	GGG		PASS	0.662	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			22	29	22	29	---	---	---	---
ARHGEF26	26084	broad.mit.edu	37	3	153905539	153905539	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:153905539T>C	ENST00000356448.4	+	7	1837	c.1553T>C	c.(1552-1554)gTg>gCg	p.V518A	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.V518A|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	518	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V518A(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AGTGACATTGTGGAAAAACAC	0.343																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)	1						c.(1552-1554)GTG>GCG		Src homology 3 domain-containing guanine							88.0	79.0	82.0					3																	153905539		1869	4107	5976	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153905539T>C	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1553T>C	3.37:g.153905539T>C	ENSP00000348828:p.Val518Ala					SGEF_uc011boh.1_Missense_Mutation_p.V518A	p.V518A	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		7	1764	+			518			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1553T>C	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784815	0.90282	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.63744	-0.06;-0.06	5.91	5.91	0.95273	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.87578	0.87;0.998	T	0.81769	-0.0781	10	0.59425	D	0.04	-28.3421	16.3483	0.83171	0.0:0.0:0.0:1.0	.	518;518	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	A	518	ENSP00000348828:V518A;ENSP00000423418:V518A	ENSP00000348828:V518A	V	+	2	0	ARHGEF26	155388229	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.540000	0.82074	2.254000	0.74563	0.533000	0.62120	GTG		PASS	0.343	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		9	18	9	18	---	---	---	---
IQCJ	654502	broad.mit.edu	37	3	158983161	158983161	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:158983161T>C	ENST00000451172.1	+	5	554	c.449T>C	c.(448-450)aTa>aCa	p.I150T	IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000482126.1_Missense_Mutation_p.I123T|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	150								p.I150T(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GAGCCCCAGATAGAAAGACTT	0.498																																						uc003fcp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)ATA>ACA		IQ motif containing J isoform CaMBPv1							105.0	99.0	101.0					3																	158983161		1875	4125	6000	SO:0001583	missense	654502							g.chr3:158983161T>C	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.449T>C	3.37:g.158983161T>C	ENSP00000402153:p.Ile150Thr					SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.I123T	p.I150T	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		5	554	+			150					B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	c.449T>C	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306956	0.23821	.	.	ENSG00000214216	ENST00000451172;ENST00000482126	.	.	.	3.29	-2.13	0.07144	.	.	.	.	.	T	0.22820	0.0551	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21484	-1.0244	8	0.87932	D	0	.	3.3317	0.07087	0.2081:0.4195:0.0:0.3724	.	123;150	B7ZMM2;Q1A5X6	.;IQCJ_HUMAN	T	150;123	.	ENSP00000402153:I150T	I	+	2	0	IQCJ	160465855	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.628000	0.05515	-0.420000	0.07427	0.482000	0.46254	ATA		PASS	0.498	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		29	37	29	37	---	---	---	---
PPM1L	151742	broad.mit.edu	37	3	160474419	160474419	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:160474419G>C	ENST00000498165.1	+	1	424	c.323G>C	c.(322-324)cGc>cCc	p.R108P	RP11-16N11.2_ENST00000566372.1_RNA|PPM1L_ENST00000497343.1_Missense_Mutation_p.R108P	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	108	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R108P(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATGGAGGACCGCTTCGAAGTT	0.597																																					Pancreas(86;250 1994 13715 43211)	uc003fdr.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(322-324)CGC>CCC		protein phosphatase 1 (formerly 2C)-like							52.0	50.0	51.0					3																	160474419		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160474419G>C	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.323G>C	3.37:g.160474419G>C	ENSP00000417659:p.Arg108Pro						p.R108P	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		1	424	+			108			Cytoplasmic (Potential).|PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.323G>C	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564645	0.86439	.	.	ENSG00000163590	ENST00000497343;ENST00000498165	T;T	0.10477	2.87;2.87	4.82	4.82	0.62117	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.89785	3.06	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.44559	-0.9320	10	0.35671	T	0.21	.	16.8952	0.86098	0.0:0.0:1.0:0.0	.	108	Q5SGD2	PPM1L_HUMAN	P	108	ENSP00000420354:R108P;ENSP00000417659:R108P	ENSP00000420354:R108P	R	+	2	0	PPM1L	161957113	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.163000	0.94750	2.235000	0.73313	0.561000	0.74099	CGC		PASS	0.597	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		12	25	12	25	---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172165633	172165633	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:172165633C>A	ENST00000241256.2	-	1	613	c.571G>T	c.(571-573)Gac>Tac	p.D191Y	GHSR_ENST00000427970.1_Missense_Mutation_p.D191Y	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	191					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.D191Y(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCCCAAGGGTCGGTGCCGTTC	0.642																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(571-573)GAC>TAC		growth hormone secretagogue receptor isoform 1a							45.0	39.0	41.0					3																	172165633		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165633C>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.571G>T	3.37:g.172165633C>A	ENSP00000241256:p.Asp191Tyr					GHSR_uc011bpv.1_Missense_Mutation_p.D191Y	p.D191Y	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	571	-	Ovarian(172;0.00143)|Breast(254;0.197)		191			Extracellular (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.571G>T	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696441	0.30142	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.38887	1.11;1.11	5.58	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.400645	0.28566	N	0.014897	T	0.38374	0.1038	L	0.28054	0.825	0.40559	D	0.981195	D;B	0.71674	0.998;0.117	D;B	0.65773	0.938;0.157	T	0.45600	-0.9250	10	0.02654	T	1	-29.7878	6.4752	0.22031	0.0:0.74:0.0:0.26	.	191;191	Q92847-2;Q92847	.;GHSR_HUMAN	Y	191	ENSP00000241256:D191Y;ENSP00000395344:D191Y	ENSP00000241256:D191Y	D	-	1	0	GHSR	173648327	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	2.547000	0.45786	2.636000	0.89361	0.455000	0.32223	GAC		PASS	0.642	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		21	22	21	22	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173525585	173525585	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:173525585G>T	ENST00000457714.1	+	4	1038	c.609G>T	c.(607-609)gtG>gtT	p.V203V	NLGN1_ENST00000401917.3_Silent_p.V243V|NLGN1_ENST00000545397.1_Silent_p.V203V|NLGN1_ENST00000361589.4_Silent_p.V203V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	220					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|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 synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.V203V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATGGCAATGTGATCGTCATCA	0.413																																						uc003fio.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(607-609)GTG>GTT		neuroligin 1							168.0	159.0	162.0					3																	173525585		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173525585G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.609G>T	3.37:g.173525585G>T						NLGN1_uc010hww.1_Silent_p.V243V|NLGN1_uc003fip.1_Silent_p.V203V	p.V203V	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1032	+	Ovarian(172;0.0025)		220			Extracellular (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.609G>T	CCDS3222.1																																																																																				PASS	0.413	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		42	54	42	54	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173998396	173998396	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:173998396C>T	ENST00000457714.1	+	7	2204	c.1775C>T	c.(1774-1776)cCa>cTa	p.P592L	NLGN1_ENST00000401917.3_Missense_Mutation_p.P632L|NLGN1_ENST00000545397.1_Missense_Mutation_p.P592L|NLGN1_ENST00000361589.4_Missense_Mutation_p.P592L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	609					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|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 synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.P592L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GGATTAAAACCAAGAGTTAAA	0.388																																						uc003fio.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1774-1776)CCA>CTA		neuroligin 1							106.0	104.0	104.0					3																	173998396		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998396C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1775C>T	3.37:g.173998396C>T	ENSP00000392500:p.Pro592Leu					NLGN1_uc003fip.1_Missense_Mutation_p.P592L	p.P592L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2198	+	Ovarian(172;0.0025)		609			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1775C>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399120	0.83120	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70306	-0.4908	10	0.66056	D	0.02	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	592	Q8N2Q7-2	.	L	592;592;592;632	ENSP00000392500:P592L;ENSP00000354541:P592L;ENSP00000441108:P592L;ENSP00000385750:P632L	ENSP00000354541:P592L	P	+	2	0	NLGN1	175481090	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.666000	0.90696	0.655000	0.94253	CCA		PASS	0.388	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		30	49	30	49	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAACCAGTAGGCAACCGTGAA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		12	Substitution - Missense(7)|Deletion - In frame(4)|Complex - deletion inframe(1)	p.G106V(4)|p.G106_R108del(2)|p.G106R(1)|p.P104_G106>R(1)	lung(4)|large_intestine(3)|breast(3)|endometrium(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(316-318)GGC>GTC		phosphoinositide-3-kinase, catalytic, alpha							90.0	86.0	87.0					3																	178916930		1825	4072	5897	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916930G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.317G>T	3.37:g.178916930G>T	ENSP00000263967:p.Gly106Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G106V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	474	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		106		G -> V (in cancer; shows an increase in lipid kinase activity).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.317G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216426	0.79352	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.67;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	V	106	ENSP00000263967:G106V;ENSP00000417479:G106V	.	G	+	2	0	PIK3CA	180399624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.584000	0.87258	0.555000	0.69702	GGC		PASS	0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			29	86	29	86	---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179050862	179050862	+	Silent	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:179050862G>C	ENST00000326361.3	+	6	700	c.255G>C	c.(253-255)ctG>ctC	p.L85L	ZNF639_ENST00000496856.1_Silent_p.L85L|ZNF639_ENST00000484866.1_Silent_p.L85L|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	85					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L85L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			agaactacctggttcccagtc	0.378																																						uc003fjq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)CTG>CTC		zinc finger protein 639							72.0	64.0	67.0					3																	179050862		2197	4292	6489	SO:0001819	synonymous_variant	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179050862G>C	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.255G>C	3.37:g.179050862G>C						ZNF639_uc003fjr.1_Silent_p.L85L	p.L85L	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		5	598	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		85					A9X3Z9|D3DNR3	Silent	SNP	ENST00000326361.3	37	c.255G>C	CCDS3227.1																																																																																				PASS	0.378	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		6	15	6	15	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182602633	182602633	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:182602633G>T	ENST00000323116.5	+	22	2862	c.2602G>T	c.(2602-2604)Ggt>Tgt	p.G868C		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	868					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G868C(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTTTGTTCATGGTCATTTTTA	0.303																																						uc003flb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2602-2604)GGT>TGT		ATPase, class VI, type 11B							113.0	118.0	116.0					3																	182602633		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182602633G>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2602G>T	3.37:g.182602633G>T	ENSP00000321195:p.Gly868Cys					ATP11B_uc003flc.2_Missense_Mutation_p.G452C|ATP11B_uc011bqm.1_Missense_Mutation_p.G172C|ATP11B_uc010hxf.1_Missense_Mutation_p.G30C	p.G868C	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		22	2859	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		868			Cytoplasmic (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.2602G>T	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.668801|4.668801	0.88348|0.88348	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000482070|ENST00000498086	D;D|.	0.98028|.	-4.67;-3.91|.	5.42|5.42	5.42|5.42	0.78866|0.78866	HAD-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91895|0.91895	0.7434|0.7434	H|H	0.99435|0.99435	4.565|4.565	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.95181|0.95181	0.8299|0.8299	10|5	0.87932|.	D|.	0|.	.|.	19.5662|19.5662	0.95393|0.95393	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	442;868|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	C|I	868;103|668	ENSP00000321195:G868C;ENSP00000417124:G103C|.	ENSP00000321195:G868C|.	G|M	+|+	1|3	0|0	ATP11B|ATP11B	184085327|184085327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.354000|9.354000	0.97083|0.97083	2.692000|2.692000	0.91855|0.91855	0.585000|0.585000	0.79938|0.79938	GGT|ATG		PASS	0.303	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		38	67	38	67	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183824114	183824114	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:183824114C>A	ENST00000415389.2	+	8	1590	c.1124C>A	c.(1123-1125)aCc>aAc	p.T375N	HTR3E_ENST00000425359.2_Missense_Mutation_p.T360N|HTR3E_ENST00000335304.2_Missense_Mutation_p.T390N|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Missense_Mutation_p.T401N|HTR3E_ENST00000436361.2_Missense_Mutation_p.T375N	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	375					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.T390N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CCGGGTCTCACCCCCACCCAC	0.652																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1123-1125)ACC>AAC		5-hydroxytryptamine receptor 3 subunit E							18.0	22.0	20.0					3																	183824114		2198	4298	6496	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183824114C>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1124C>A	3.37:g.183824114C>A	ENSP00000401444:p.Thr375Asn					HTR3E_uc003fml.3_Missense_Mutation_p.T360N|HTR3E_uc003fmm.2_Missense_Mutation_p.T390N|HTR3E_uc010hxr.2_Missense_Mutation_p.T401N|HTR3E_uc003fmn.2_Missense_Mutation_p.T375N	p.T375N	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1590	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		375			Cytoplasmic (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.1124C>A	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	c	2.958	-0.215138	0.06101	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	3.64	-2.93	0.05598	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.283200	0.03145	U	0.167169	T	0.68375	0.2994	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.14805	0.011;0.009;0.007;0.007;0.007	B;B;B;B;B	0.18263	0.021;0.01;0.009;0.009;0.009	T	0.41197	-0.9522	10	0.16896	T	0.51	.	1.5774	0.02627	0.146:0.3742:0.2736:0.2062	.	401;375;375;390;360	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	N	375;360;390;375;401	ENSP00000401444:T375N;ENSP00000401900:T360N;ENSP00000335511:T390N;ENSP00000395833:T375N;ENSP00000406050:T401N	ENSP00000335511:T390N	T	+	2	0	HTR3E	185306808	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.703000	0.05063	-0.502000	0.06596	-0.215000	0.12644	ACC		PASS	0.652	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		11	5	11	5	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	184003353	184003353	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:184003353G>T	ENST00000402825.3	+	10	1590	c.1590G>T	c.(1588-1590)ctG>ctT	p.L530L	ECE2_ENST00000404464.3_Silent_p.L412L|ECE2_ENST00000357474.5_Silent_p.L458L|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.L383L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	530	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.L458L(1)|p.L383L(1)|p.L530L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGAGAAGCTGCTGGAGACCC	0.507																																						uc003fni.3																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|skin(2)	4						c.(1588-1590)CTG>CTT		endothelin converting enzyme 2 isoform A							118.0	109.0	112.0					3																	184003353		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184003353G>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1590G>T	3.37:g.184003353G>T						ECE2_uc011brh.1_Silent_p.L383L|ECE2_uc003fnl.3_Silent_p.L458L|ECE2_uc003fnm.3_Silent_p.L412L|ECE2_uc003fnk.3_Silent_p.L383L|ECE2_uc011bri.1_Silent_p.L445L|ECE2_uc010hxv.2_Silent_p.L174L	p.L530L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1628	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		530			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.1590G>T	CCDS3256.2																																																																																				PASS	0.507	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		42	38	42	38	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185209360	185209360	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:185209360T>A	ENST00000421852.1	-	5	855	c.760A>T	c.(760-762)Act>Tct	p.T254S	TMEM41A_ENST00000475480.1_Intron|TMEM41A_ENST00000296254.3_3'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	254						integral component of membrane (GO:0016021)		p.T254S(1)		large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGATTAGCAGTACTTGTTTCA	0.393																																						uc003fpj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)ACT>TCT		transmembrane protein 41A precursor							159.0	149.0	153.0					3																	185209360		2203	4300	6503	SO:0001583	missense	90407					integral to membrane		g.chr3:185209360T>A	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.760A>T	3.37:g.185209360T>A	ENSP00000406885:p.Thr254Ser					TMEM41A_uc003fpk.2_3'UTR	p.T254S	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		5	856	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		254					A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	37	c.760A>T	CCDS3271.1	.	.	.	.	.	.	.	.	.	.	T	4.627	0.116534	0.08881	.	.	ENSG00000163900	ENST00000421852	.	.	.	5.93	0.471	0.16752	.	1.687680	0.02368	N	0.077559	T	0.15176	0.0366	N	0.01874	-0.695	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	9	0.10111	T	0.7	-16.6538	8.1043	0.30877	0.0:0.0683:0.3946:0.5371	.	254	Q96HV5	TM41A_HUMAN	S	254	.	ENSP00000406885:T254S	T	-	1	0	TMEM41A	186692054	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.069000	0.14552	-0.130000	0.11599	0.533000	0.62120	ACT		PASS	0.393	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		24	75	24	75	---	---	---	---
IGF2BP2	10644	broad.mit.edu	37	3	185414409	185414409	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:185414409C>T	ENST00000382199.2	-	4	426	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V111M|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V48M|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V111M	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	111	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.V111M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCTTGTTCCACATTCTCCACT	0.383																																						uc003fpo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GTG>ATG		insulin-like growth factor 2 mRNA binding							131.0	121.0	125.0					3																	185414409		2203	4300	6503	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185414409C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.331G>A	3.37:g.185414409C>T	ENSP00000371634:p.Val111Met					IGF2BP2_uc010hyi.2_Missense_Mutation_p.V48M|IGF2BP2_uc010hyj.2_Missense_Mutation_p.V48M|IGF2BP2_uc010hyk.2_Translation_Start_Site|IGF2BP2_uc010hyl.2_Missense_Mutation_p.V48M|IGF2BP2_uc003fpp.2_Missense_Mutation_p.V111M|IGF2BP2_uc003fpq.2_Missense_Mutation_p.V110M	p.V111M	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		4	410	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		111			RRM 2.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.331G>A	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287032	0.80803	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.38	5.38	0.77491	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.78344	2.41	0.51233	D	0.999913	D;D;D;D;D;D	0.63880	0.993;0.993;0.993;0.958;0.958;0.966	D;D;D;P;P;P	0.65443	0.935;0.935;0.935;0.875;0.62;0.889	T	0.40079	-0.9582	10	0.62326	D	0.03	-13.7711	13.2533	0.60064	0.1591:0.8409:0.0:0.0	.	48;48;48;111;111;111	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	M	111;48;111;111	ENSP00000371634:V111M;ENSP00000413787:V48M;ENSP00000410242:V111M;ENSP00000320204:V111M	ENSP00000320204:V111M	V	-	1	0	IGF2BP2	186897103	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.617000	0.54181	2.685000	0.91497	0.561000	0.74099	GTG		PASS	0.383	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		59	36	59	36	---	---	---	---
PYDC2	152138	broad.mit.edu	37	3	191179134	191179134	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:191179134C>G	ENST00000518817.1	+	1	183	c.183C>G	c.(181-183)agC>agG	p.S61R		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	61	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S61R(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						TCTTCACCAGCCACTCCTGCA	0.517																																						uc011bso.1																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)AGC>AGG		pyrin domain containing 2							70.0	80.0	76.0					3																	191179134		2179	4296	6475	SO:0001583	missense	152138					cytoplasm|nucleus		g.chr3:191179134C>G			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.183C>G	3.37:g.191179134C>G	ENSP00000428325:p.Ser61Arg						p.S61R	NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN			1	183	+			61			DAPIN.			Missense_Mutation	SNP	ENST00000518817.1	37	c.183C>G		.	.	.	.	.	.	.	.	.	.	C	5.542	0.284913	0.10513	.	.	ENSG00000253548	ENST00000518817	T	0.49720	0.77	0.688	0.688	0.18027	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.31734	0.0806	.	.	.	0.09310	N	1	P	0.40515	0.719	B	0.39258	0.295	T	0.12293	-1.0553	7	0.27082	T	0.32	.	.	.	.	.	61	Q56P42	PYDC2_HUMAN	R	61	ENSP00000428325:S61R	ENSP00000428325:S61R	S	+	3	2	PYDC2	192661828	0.046000	0.20272	0.150000	0.22450	0.168000	0.22595	-0.171000	0.09883	0.635000	0.30488	0.313000	0.20887	AGC		PASS	0.517	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2	NM_001083308		35	60	35	60	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196386836	196386836	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:196386836C>T	ENST00000328557.4	+	3	525	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	108					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R108C(1)									AGGTCACCTGCGCAGCCTGGT	0.672																																						uc003fwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(322-324)CGC>TGC		leucine rich repeat containing 33 precursor							36.0	36.0	36.0					3																	196386836		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196386836C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.322C>T	3.37:g.196386836C>T	ENSP00000328625:p.Arg108Cys						p.R108C	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	426	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		108			Extracellular (Potential).|LRR 3.			Missense_Mutation	SNP	ENST00000328557.4	37	c.322C>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172239	0.38315	.	.	ENSG00000174004	ENST00000328557	T	0.01092	5.35	6.07	4.25	0.50352	.	0.858773	0.10820	N	0.630604	T	0.02970	0.0088	M	0.88241	2.94	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.36817	-0.9732	10	0.62326	D	0.03	.	5.9165	0.19057	0.3304:0.4965:0.1089:0.0642	.	108	Q86YC3	LRC33_HUMAN	C	108	ENSP00000328625:R108C	ENSP00000328625:R108C	R	+	1	0	LRRC33	197871233	0.000000	0.05858	0.011000	0.14972	0.692000	0.40212	-0.508000	0.06344	0.860000	0.35481	0.655000	0.94253	CGC		PASS	0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		8	57	8	57	---	---	---	---
LRCH3	84859	broad.mit.edu	37	3	197556525	197556525	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:197556525C>G	ENST00000425562.2	+	6	868	c.868C>G	c.(868-870)Ccg>Gcg	p.P290A	LRCH3_ENST00000536618.1_5'UTR|AC055764.1_ENST00000454526.1_RNA|LRCH3_ENST00000441090.2_Missense_Mutation_p.P164A|LRCH3_ENST00000438796.2_Missense_Mutation_p.P290A|LRCH3_ENST00000334859.4_Missense_Mutation_p.P290A|LRCH3_ENST00000414675.2_Missense_Mutation_p.P290A			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	290						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.P290A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TGATAGGAGACCGTTGGGTTT	0.338																																						uc011bul.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(868-870)CCG>GCG		leucine-rich repeats and calponin homology (CH)							169.0	169.0	169.0					3																	197556525		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197556525C>G	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.868C>G	3.37:g.197556525C>G	ENSP00000393579:p.Pro290Ala					LRCH3_uc003fyj.1_Missense_Mutation_p.P290A|LRCH3_uc011bum.1_Missense_Mutation_p.P290A|LRCH3_uc011bun.1_Missense_Mutation_p.P164A|LRCH3_uc003fyk.2_5'UTR	p.P290A	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	6	873	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		290			LRR 9.		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.868C>G		.	.	.	.	.	.	.	.	.	.	C	18.63	3.666392	0.67814	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.37411	1.88;1.2;1.98;2.13;1.9	5.44	5.44	0.79542	.	0.119417	0.56097	D	0.000021	T	0.43590	0.1254	L	0.28556	0.865	0.80722	D	1	D;D;D;P	0.69078	0.997;0.991;0.997;0.744	D;P;D;B	0.71656	0.922;0.783;0.974;0.406	T	0.11324	-1.0592	10	0.11794	T	0.64	-3.1129	14.189	0.65625	0.1495:0.8504:0.0:0.0	.	164;290;290;290	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	A	290;164;290;290;290	ENSP00000399751:P290A;ENSP00000394609:P164A;ENSP00000394965:P290A;ENSP00000334375:P290A;ENSP00000393579:P290A	ENSP00000334375:P290A	P	+	1	0	LRCH3	199040922	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.357000	0.52277	2.561000	0.86390	0.650000	0.86243	CCG		PASS	0.338	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		54	36	54	36	---	---	---	---
ADRA2C	152	broad.mit.edu	37	4	3768709	3768709	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:3768709G>C	ENST00000330055.5	+	1	585	c.376G>C	c.(376-378)Gtg>Ctg	p.V126L	ADRA2C_ENST00000509482.1_Missense_Mutation_p.V126L	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	126					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V126L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGGTGCGGCGTGTACCTGGC	0.632																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)GTG>CTG		alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						82.0	82.0	82.0					4																	3768709		2203	4300	6503	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768709G>C	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.376G>C	4.37:g.3768709G>C	ENSP00000386069:p.Val126Leu					ADRA2C_uc010icx.2_Missense_Mutation_p.V126L	p.V126L	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	414	+			126			Helical; Name=3; (By similarity).		P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.376G>C	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035320	0.35893	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.35421	1.31;1.31	3.21	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17280	0.0415	N	0.16098	0.37	0.38988	D	0.959082	B;B	0.27700	0.186;0.038	B;B	0.28991	0.097;0.048	T	0.11251	-1.0595	9	0.23891	T	0.37	.	3.1662	0.06536	0.4381:0.0:0.5619:0.0	.	126;126	D6RGL0;P18825	.;ADA2C_HUMAN	L	126	ENSP00000426268:V126L;ENSP00000386069:V126L	ENSP00000386069:V126L	V	+	1	0	ADRA2C	3738507	0.998000	0.40836	0.993000	0.49108	0.764000	0.43329	2.786000	0.47790	1.631000	0.50456	0.561000	0.74099	GTG		PASS	0.632	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		12	7	12	7	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4228266	4228266	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:4228266C>A	ENST00000296358.4	-	1	350	c.326G>T	c.(325-327)tGg>tTg	p.W109L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	109					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.W109L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCCCACGTACCACAGCATCCA	0.726																																						uc003ghp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(325-327)TGG>TTG		otopetrin 1							8.0	10.0	9.0					4																	4228266		2040	4019	6059	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228266C>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.326G>T	4.37:g.4228266C>A	ENSP00000296358:p.Trp109Leu						p.W109L	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	356	-			109			Helical; (Potential).		A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.326G>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668239	0.88348	.	.	ENSG00000163982	ENST00000296358	T	0.08193	3.12	3.55	3.55	0.40652	.	0.073236	0.64402	U	0.000014	T	0.16642	0.0400	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	P	0.61874	0.895	T	0.03139	-1.1068	10	0.56958	D	0.05	.	15.3141	0.74059	0.0:1.0:0.0:0.0	.	109	Q7RTM1	OTOP1_HUMAN	L	109	ENSP00000296358:W109L	ENSP00000296358:W109L	W	-	2	0	OTOP1	4279167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.947000	0.70242	1.826000	0.53198	0.430000	0.28490	TGG		PASS	0.726	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		5	5	5	5	---	---	---	---
CD38	952	broad.mit.edu	37	4	15818263	15818263	+	Splice_Site	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:15818263G>T	ENST00000226279.3	+	2	500	c.363G>T	c.(361-363)aaG>aaT	p.K121N		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	121					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.K121N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CTTGCAACAAGGTAATTGGGG	0.373																																						uc011bxc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(361-363)AAG>AAT		CD38 antigen							103.0	96.0	98.0					4																	15818263		2203	4300	6503	SO:0001630	splice_region_variant	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15818263G>T	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.363+1G>T	4.37:g.15818263G>T						CD38_uc003goj.1_Missense_Mutation_p.K121N|CD38_uc003gol.1_Missense_Mutation_p.K121N	p.K121N	NM_001775	NP_001766	P28907	CD38_HUMAN			2	470	+			121			Extracellular (Potential).		O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.363G>T	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.266177	0.40095	.	.	ENSG00000004468	ENST00000226279;ENST00000540195;ENST00000510674	T;T	0.18174	2.23;2.23	5.57	3.83	0.44106	NAD(P)-binding domain (1);	0.270718	0.40728	N	0.001034	T	0.40932	0.1137	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.961;0.961	T	0.27773	-1.0064	10	0.87932	D	0	-17.2678	8.0762	0.30718	0.0814:0.0:0.7608:0.1579	.	121;121	P28907;B2R880	CD38_HUMAN;.	N	121;121;15	ENSP00000226279:K121N;ENSP00000423047:K15N	ENSP00000226279:K121N	K	+	3	2	CD38	15427361	1.000000	0.71417	0.978000	0.43139	0.125000	0.20455	3.815000	0.55651	0.702000	0.31825	-0.311000	0.09066	AAG		PASS	0.373	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775	Missense_Mutation	27	15	27	15	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30724272	30724272	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:30724272G>C	ENST00000361762.2	+	1	2236	c.1228G>C	c.(1228-1230)Gac>Cac	p.D410H	PCDH7_ENST00000543491.1_Missense_Mutation_p.D410H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	410	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.D363H(1)|p.D410H(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						AGACGAGAACGACAACGTGCC	0.637																																						uc003gsk.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1228-1230)GAC>CAC		protocadherin 7 isoform a precursor							43.0	46.0	45.0					4																	30724272		2202	4300	6502	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724272G>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.1228G>C	4.37:g.30724272G>C	ENSP00000355243:p.Asp410His					PCDH7_uc011bxw.1_Missense_Mutation_p.D363H|PCDH7_uc011bxx.1_Missense_Mutation_p.D410H	p.D410H	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2236	+			410			Cadherin 3.|Extracellular (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1228G>C	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.332908|3.332908	0.60853|0.60853	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.54675|.	0.56;0.56|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.91199|0.91199	0.7227|0.7227	H|H	0.98918|0.98918	4.37|4.37	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.94818|0.94818	0.7984|0.7984	9|5	0.87932|.	D|.	0|.	.|.	18.8233|18.8233	0.92106|0.92106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	410;363;410|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	H|P	410;410;363|99	ENSP00000355243:D410H;ENSP00000441802:D410H|.	ENSP00000330302:D363H|.	D|R	+|+	1|2	0|0	PCDH7|PCDH7	30333370|30333370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.516000|0.516000	0.34256|0.34256	9.869000|9.869000	0.99810|0.99810	2.453000|2.453000	0.82957|0.82957	0.655000|0.655000	0.94253|0.94253	GAC|CGA		PASS	0.637	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		12	8	12	8	---	---	---	---
FAM114A1	92689	broad.mit.edu	37	4	38879895	38879895	+	Missense_Mutation	SNP	A	A	G	rs139197115		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:38879895A>G	ENST00000358869.2	+	3	372	c.196A>G	c.(196-198)Att>Gtt	p.I66V	FAM114A1_ENST00000515037.1_Intron	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	66						cytoplasm (GO:0005737)		p.I66V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCTGCCGCCATTGGGCCCCC	0.582													A|||	1	0.000199681	0.0	0.0	5008	,	,		16379	0.0		0.001	False		,,,				2504	0.0					uc003gtn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)ATT>GTT		hypothetical protein LOC92689		A	VAL/ILE	0,4406		0,0,2203	34.0	35.0	34.0		196	-7.0	0.0	4	dbSNP_134	34	6,8594	5.0+/-18.6	0,6,4294	yes	missense	FAM114A1	NM_138389.2	29	0,6,6497	GG,GA,AA		0.0698,0.0,0.0461	benign	66/564	38879895	6,13000	2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38879895A>G		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.196A>G	4.37:g.38879895A>G	ENSP00000351740:p.Ile66Val					FAM114A1_uc011byh.1_Intron|FAM114A1_uc011byg.1_Missense_Mutation_p.I66V	p.I66V	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN			3	372	+			66					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.196A>G	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	A	0.407	-0.915222	0.02415	0.0	6.98E-4	ENSG00000197712	ENST00000510213;ENST00000358869	T;T	0.23950	1.88;2.96	4.69	-7.04	0.01578	.	1.885660	0.02489	N	0.089310	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.23868	-1.0176	10	0.07482	T	0.82	2.3479	0.3107	0.00287	0.3626:0.2158:0.2063:0.2153	.	66	Q8IWE2	NXP20_HUMAN	V	66	ENSP00000422965:I66V;ENSP00000351740:I66V	ENSP00000351740:I66V	I	+	1	0	FAM114A1	38556290	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.474000	0.06607	-1.423000	0.02002	-0.388000	0.06559	ATT		PASS	0.582	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		16	9	16	9	---	---	---	---
CHRNA9	55584	broad.mit.edu	37	4	40356465	40356465	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:40356465C>G	ENST00000310169.2	+	5	1507	c.1368C>G	c.(1366-1368)gaC>gaG	p.D456E		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	456					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.D456E(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AAGTCATAGACCGATTCTTCA	0.433																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	uc003gva.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(3)|central_nervous_system(1)	7						c.(1366-1368)GAC>GAG		cholinergic receptor, nicotinic, alpha 9	Nicotine(DB00184)						186.0	164.0	172.0					4																	40356465		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40356465C>G	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.1368C>G	4.37:g.40356465C>G	ENSP00000312663:p.Asp456Glu						p.D456E	NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN			5	1384	+			456			Cytoplasmic (Potential).		Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.1368C>G	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014070	0.75161	.	.	ENSG00000174343	ENST00000310169	D	0.98381	-4.9	5.35	0.591	0.17465	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.089817	0.85682	D	0.000000	D	0.99137	0.9702	H	0.97265	3.97	0.50171	D	0.999852	D	0.76494	0.999	D	0.76071	0.987	D	0.98871	1.0766	10	0.87932	D	0	.	9.9183	0.41448	0.0:0.6592:0.0:0.3408	.	456	Q9UGM1	ACHA9_HUMAN	E	456	ENSP00000312663:D456E	ENSP00000312663:D456E	D	+	3	2	CHRNA9	40051222	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	0.904000	0.28491	0.014000	0.14944	0.455000	0.32223	GAC		PASS	0.433	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			13	51	13	51	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42554597	42554597	+	Missense_Mutation	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:42554597T>G	ENST00000381668.5	-	17	1675	c.1444A>C	c.(1444-1446)Aca>Cca	p.T482P	ATP8A1_ENST00000264449.10_Missense_Mutation_p.T467P	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	482					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T482P(1)|p.T467P(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCCATCATTGTAAGAAATTCA	0.368																																						uc003gwr.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1444-1446)ACA>CCA		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						117.0	107.0	111.0					4																	42554597		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42554597T>G	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1444A>C	4.37:g.42554597T>G	ENSP00000371084:p.Thr482Pro					ATP8A1_uc003gws.2_Missense_Mutation_p.T467P|ATP8A1_uc011byz.1_Missense_Mutation_p.T467P	p.T482P	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			17	1676	-			482			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1444A>C	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805397	0.90623	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.63417	-0.04;-0.04	5.75	5.75	0.90469	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.84647	0.5518	H	0.95470	3.675	0.80722	D	1	P;D;D	0.76494	0.917;0.999;0.999	B;D;D	0.81914	0.348;0.995;0.981	D	0.87030	0.2134	10	0.34782	T	0.22	.	16.0515	0.80765	0.0:0.0:0.0:1.0	.	467;467;482	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	P	482;467	ENSP00000371084:T482P;ENSP00000264449:T467P	ENSP00000264449:T467P	T	-	1	0	ATP8A1	42249354	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	7.134000	0.77268	2.197000	0.70478	0.528000	0.53228	ACA		PASS	0.368	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		22	11	22	11	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42588390	42588390	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:42588390C>A	ENST00000381668.5	-	9	929	c.698G>T	c.(697-699)gGa>gTa	p.G233V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G233V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	233					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G233V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCTTATGTTTCCAACAAAATC	0.383																																						uc003gwr.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(697-699)GGA>GTA		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						126.0	119.0	121.0					4																	42588390		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42588390C>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.698G>T	4.37:g.42588390C>A	ENSP00000371084:p.Gly233Val					ATP8A1_uc003gws.2_Missense_Mutation_p.G233V|ATP8A1_uc011byz.1_Missense_Mutation_p.G233V	p.G233V	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			9	930	-			233			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.698G>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130770	0.94473	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.75938	-0.98;-0.98	5.85	5.85	0.93711	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92446	0.7602	H	0.98646	4.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94711	0.7892	10	0.87932	D	0	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	233;233;233	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	V	233	ENSP00000371084:G233V;ENSP00000264449:G233V	ENSP00000264449:G233V	G	-	2	0	ATP8A1	42283147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	GGA		PASS	0.383	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		27	17	27	17	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52860817	52860818	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:52860817_52860818CC>AA	ENST00000343457.3	-	4	2376_2377	c.2370_2371GG>TT	c.(2368-2373)ctGGaa>ctTTaa	p.E791*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	791						integral component of membrane (GO:0016021)		p.E791*(2)|p.L790L(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAGGCATTTTCCAGATGAGTCT	0.475																																						uc003gzi.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2371-2373)GAA>TAA|c.(2368-2370)CTG>CTT		leucine rich repeat containing 66																																				SO:0001587	stop_gained	339977					integral to membrane		g.chr4:52860817C>A|g.chr4:52860818C>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2370_2371delinsAA	4.37:g.52860817_52860818delinsAA	ENSP00000341944:p.Glu791*						p.E791*|p.L790L	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2384|2383	-			791|790						Nonsense_Mutation|Silent	SNP	ENST00000343457.3	37	c.2371G>T|c.2370G>T	CCDS43229.1																																																																																				PASS	0.475	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		18|19	6	18	6	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62599252	62599252	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:62599252G>T	ENST00000514591.1	+	7	1504	c.1175G>T	c.(1174-1176)gGa>gTa	p.G392V	LPHN3_ENST00000504896.1_Missense_Mutation_p.G392V|LPHN3_ENST00000506720.1_Missense_Mutation_p.G460V|LPHN3_ENST00000514996.1_Missense_Mutation_p.G392V|LPHN3_ENST00000508693.1_Missense_Mutation_p.G460V|LPHN3_ENST00000511324.1_Missense_Mutation_p.G460V|LPHN3_ENST00000506700.1_Missense_Mutation_p.G392V|LPHN3_ENST00000545650.1_Missense_Mutation_p.G392V|LPHN3_ENST00000508946.1_Missense_Mutation_p.G392V|LPHN3_ENST00000507625.1_Missense_Mutation_p.G460V|LPHN3_ENST00000509896.1_Missense_Mutation_p.G460V|LPHN3_ENST00000507164.1_Missense_Mutation_p.G460V|LPHN3_ENST00000514157.1_Missense_Mutation_p.G392V|LPHN3_ENST00000512091.2_Missense_Mutation_p.G392V|LPHN3_ENST00000506746.1_Missense_Mutation_p.G460V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	392	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.G392V(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						TTGGATTTTGGACCTCTGGAT	0.358																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1174-1176)GGA>GTA		latrophilin 3 precursor							42.0	39.0	40.0					4																	62599252		1836	4088	5924	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599252G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1175G>T	4.37:g.62599252G>T	ENSP00000422533:p.Gly392Val					LPHN3_uc003hcq.3_Missense_Mutation_p.G392V|LPHN3_uc010ihg.1_Missense_Mutation_p.G460V|LPHN3_uc003hcs.1_Missense_Mutation_p.G221V	p.G392V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			5	1348	+			392			Extracellular (Potential).|Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1175G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178489	0.57692	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.92708	0.7682	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.92958	0.6386	10	0.87932	D	0	.	11.4352	0.50064	0.0827:0.0:0.9173:0.0	.	392;460;392	E9PE04;E7EN28;Q9HAR2-2	.;.;.	V	392;392;460;460;392;392;392;392;392;460;460;460;392;392;392;460;460;392	ENSP00000423388:G392V;ENSP00000422533:G392V;ENSP00000423787:G460V;ENSP00000425033:G460V;ENSP00000424120:G392V;ENSP00000439831:G392V;ENSP00000421476:G460V;ENSP00000424030:G460V;ENSP00000421372:G460V;ENSP00000425201:G392V;ENSP00000423434:G392V;ENSP00000421627:G392V;ENSP00000420931:G460V;ENSP00000425884:G460V;ENSP00000424258:G392V	ENSP00000280009:G392V	G	+	2	0	LPHN3	62281847	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.690000	0.84178	2.471000	0.83476	0.557000	0.71058	GGA		PASS	0.358	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			10	1	10	1	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66535395	66535395	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:66535395G>T	ENST00000273854.3	-	1	666	c.66C>A	c.(64-66)ccC>ccA	p.P22P	EPHA5_ENST00000354839.4_Silent_p.P22P|EPHA5_ENST00000511294.1_Silent_p.P22P|RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000432638.2_Silent_p.P22P	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	22					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.P22P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTGGGGTGATGGGGGTGTCGC	0.756										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - coding silent(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(64-66)CCC>CCA		ephrin receptor EphA5 isoform a precursor							6.0	8.0	7.0					4																	66535395		2069	4154	6223	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66535395G>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.66C>A	4.37:g.66535395G>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Silent_p.P22P|EPHA5_uc011cah.1_Silent_p.P22P|EPHA5_uc011cai.1_Silent_p.P22P|EPHA5_uc003hda.2_Silent_p.P22P|uc003hdb.2_5'Flank	p.P22P	NM_004439	NP_004430	P54756	EPHA5_HUMAN			1	259	-			22					Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.66C>A	CCDS3513.1																																																																																				PASS	0.756	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		6	0	6	0	---	---	---	---
TMPRSS11B	132724	broad.mit.edu	37	4	69093705	69093705	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:69093705C>A	ENST00000332644.5	-	10	1336	c.1175G>T	c.(1174-1176)gGt>gTt	p.G392V		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	392	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.G392V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATTCTTTTTACCACATCCATC	0.393																																						uc003hdw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1174-1176)GGT>GTT		transmembrane protease, serine 11B							129.0	117.0	121.0					4																	69093705		2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69093705C>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.1175G>T	4.37:g.69093705C>A	ENSP00000330475:p.Gly392Val						p.G392V	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			10	1311	-			392			Peptidase S1.|Extracellular (Potential).		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.1175G>T	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537505	0.27475	.	.	ENSG00000185873	ENST00000332644	D	0.94497	-3.44	4.76	-3.12	0.05282	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.343467	0.21055	N	0.080924	D	0.96194	0.8759	M	0.88181	2.935	0.27939	N	0.937588	D	0.60160	0.987	P	0.60949	0.881	D	0.93276	0.6656	10	0.87932	D	0	.	10.7855	0.46403	0.1029:0.1708:0.6551:0.0712	.	392	Q86T26	TM11B_HUMAN	V	392	ENSP00000330475:G392V	ENSP00000330475:G392V	G	-	2	0	TMPRSS11B	68776300	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.469000	0.06648	-0.889000	0.03950	0.555000	0.69702	GGT		PASS	0.393	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		32	11	32	11	---	---	---	---
TMPRSS11B	132724	broad.mit.edu	37	4	69101752	69101752	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:69101752C>T	ENST00000332644.5	-	4	437	c.276G>A	c.(274-276)aaG>aaA	p.K92K		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	92	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.K92K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGACATATTCCTTATATATAC	0.249																																						uc003hdw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(274-276)AAG>AAA		transmembrane protease, serine 11B							44.0	46.0	45.0					4																	69101752		2190	4274	6464	SO:0001819	synonymous_variant	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69101752C>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.276G>A	4.37:g.69101752C>T							p.K92K	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			4	412	-			92			SEA.|Extracellular (Potential).		A8K4D9	Silent	SNP	ENST00000332644.5	37	c.276G>A	CCDS3521.1																																																																																				PASS	0.249	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		23	10	23	10	---	---	---	---
SULT1B1	27284	broad.mit.edu	37	4	70620797	70620797	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:70620797G>T	ENST00000310613.3	-	2	436	c.139C>A	c.(139-141)Cct>Act	p.P47T		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	47					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.P47T(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTGATTTAGGATAAGTGGCT	0.398																																						uc003hen.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)CCT>ACT		sulfotransferase family, cytosolic, 1B, member							164.0	157.0	160.0					4																	70620797		2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620797G>T	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.139C>A	4.37:g.70620797G>T	ENSP00000308770:p.Pro47Thr						p.P47T	NM_014465	NP_055280	O43704	ST1B1_HUMAN			2	437	-			47					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.139C>A	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625440	0.66901	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	T;T;T	0.03386	3.95;3.95;3.95	4.97	4.97	0.65823	Sulfotransferase domain (1);	0.267167	0.26995	N	0.021456	T	0.37128	0.0992	H	0.99650	4.68	0.49798	D	0.999827	D	0.89917	1.0	D	0.81914	0.995	T	0.65409	-0.6175	10	0.87932	D	0	.	16.0919	0.81098	0.0:0.0:1.0:0.0	.	47	O43704	ST1B1_HUMAN	T	47;47;28	ENSP00000308770:P47T;ENSP00000425464:P47T;ENSP00000427536:P28T	ENSP00000308770:P47T	P	-	1	0	SULT1B1	70655386	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	6.830000	0.75319	2.481000	0.83766	0.591000	0.81541	CCT		PASS	0.398	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		79	24	79	24	---	---	---	---
AFM	173	broad.mit.edu	37	4	74350016	74350016	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:74350016T>A	ENST00000226355.3	+	3	272	c.179T>A	c.(178-180)tTt>tAt	p.F60Y		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	60	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.F60Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGCAACCTTTGAAGAAATG	0.403																																						uc003hhb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(178-180)TTT>TAT		afamin precursor							111.0	109.0	110.0					4																	74350016		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74350016T>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.179T>A	4.37:g.74350016T>A	ENSP00000226355:p.Phe60Tyr						p.F60Y	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	210	+	Breast(15;0.00102)		60			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.179T>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	T	3.804	-0.041046	0.07452	.	.	ENSG00000079557	ENST00000226355	T	0.74842	-0.88	5.09	3.85	0.44370	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.202919	0.42420	D	0.000717	T	0.49081	0.1536	N	0.16368	0.405	0.29882	N	0.825931	B	0.28667	0.219	B	0.26202	0.067	T	0.47249	-0.9132	10	0.02654	T	1	.	6.7954	0.23722	0.2646:0.0:0.0:0.7354	.	60	P43652	AFAM_HUMAN	Y	60	ENSP00000226355:F60Y	ENSP00000226355:F60Y	F	+	2	0	AFM	74568880	0.976000	0.34144	0.999000	0.59377	0.712000	0.41017	0.197000	0.17197	1.930000	0.55929	0.528000	0.53228	TTT		PASS	0.403	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			28	15	28	15	---	---	---	---
GK2	2712	broad.mit.edu	37	4	80329252	80329252	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:80329252G>T	ENST00000358842.3	-	1	120	c.103C>A	c.(103-105)Cta>Ata	p.L35I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.L35I(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGACTAAGTAGTTCCGCTGTT	0.488																																						uc003hlu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(103-105)CTA>ATA		glycerol kinase 2							112.0	109.0	110.0					4																	80329252		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329252G>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.103C>A	4.37:g.80329252G>T	ENSP00000351706:p.Leu35Ile						p.L35I	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	121	-			35					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.103C>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.840889	0.00573	.	.	ENSG00000196475	ENST00000358842	T	0.39997	1.05	3.57	2.71	0.32032	Carbohydrate kinase, FGGY, N-terminal (1);	0.136309	0.49916	D	0.000123	T	0.22627	0.0546	N	0.05306	-0.075	0.53688	D	0.999978	B	0.32876	0.388	B	0.41691	0.364	T	0.10753	-1.0616	10	0.02654	T	1	-13.7119	11.1578	0.48497	0.0:0.1889:0.8111:0.0	.	35	Q14410	GLPK2_HUMAN	I	35	ENSP00000351706:L35I	ENSP00000351706:L35I	L	-	1	2	GK2	80548276	1.000000	0.71417	0.354000	0.25760	0.094000	0.18550	2.610000	0.46325	1.077000	0.40990	0.460000	0.39030	CTA		PASS	0.488	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		44	18	44	18	---	---	---	---
DSPP	1834	broad.mit.edu	37	4	88532089	88532089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:88532089G>A	ENST00000282478.7	+	1	62	c.29G>A	c.(28-30)tGg>tAg	p.W10*	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Nonsense_Mutation_p.W10*			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	10					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.W10*(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TTTTGCATTTGGGCAGTAGCA	0.299																																						uc003hqu.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(28-30)TGG>TAG		dentin sialophosphoprotein preproprotein							113.0	109.0	110.0					4																	88532089		1834	4085	5919	SO:0001587	stop_gained	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88532089G>A	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.29G>A	4.37:g.88532089G>A	ENSP00000282478:p.Trp10*						p.W10*	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	2	149	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	10					A8MUI0|O95815	Nonsense_Mutation	SNP	ENST00000282478.7	37	c.29G>A	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	34	5.337575	0.95758	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	.	.	.	4.94	4.04	0.47022	.	0.280045	0.19494	N	0.112901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0021	10.041	0.42158	0.0:0.0:0.7993:0.2007	.	.	.	.	X	10	.	ENSP00000282478:W10X	W	+	2	0	DSPP	88751113	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	2.702000	0.47102	2.722000	0.93159	0.557000	0.71058	TGG		PASS	0.299	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		31	12	31	12	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94343994	94343994	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:94343994G>T	ENST00000282020.4	+	10	1678	c.1420G>T	c.(1420-1422)Gtt>Ttt	p.V474F	GRID2_ENST00000510992.1_Missense_Mutation_p.V379F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	474					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.V474F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTCCATTGATGTTTTGGATGC	0.413																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1420-1422)GTT>TTT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						117.0	117.0	117.0					4																	94343994		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94343994G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1420G>T	4.37:g.94343994G>T	ENSP00000282020:p.Val474Phe					GRID2_uc011cdu.1_Missense_Mutation_p.V379F	p.V474F	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1678	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	474			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1420G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453598	0.84209	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.12774	2.65;2.65	5.23	5.23	0.72850	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	L	0.35341	1.055	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59424	0.857;0.857	T	0.01323	-1.1385	10	0.87932	D	0	.	18.8133	0.92068	0.0:0.0:1.0:0.0	.	379;474	E9PH24;O43424	.;GRID2_HUMAN	F	474;379	ENSP00000282020:V474F;ENSP00000421257:V379F	ENSP00000282020:V474F	V	+	1	0	GRID2	94563017	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.006000	0.88564	2.438000	0.82558	0.650000	0.86243	GTT		PASS	0.413	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			29	13	29	13	---	---	---	---
METAP1	23173	broad.mit.edu	37	4	99982392	99982392	+	Missense_Mutation	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:99982392T>G	ENST00000296411.6	+	11	1219	c.1085T>G	c.(1084-1086)cTg>cGg	p.L362R	METAP1_ENST00000544031.1_Missense_Mutation_p.L312R	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	362					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.L362R(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CACACCCTCCTGGTCACAGAC	0.517																																						uc003huf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1084-1086)CTG>CGG		methionyl aminopeptidase 1							142.0	148.0	146.0					4																	99982392		1976	4159	6135	SO:0001583	missense	23173				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr4:99982392T>G	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.1085T>G	4.37:g.99982392T>G	ENSP00000296411:p.Leu362Arg					METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_RNA	p.L362R	NM_015143	NP_055958	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	11	1202	+			362					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.1085T>G	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705720	0.68615	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133;ENST00000514051	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	4.78	4.78	0.61160	Peptidase M24, structural domain (3);	0.000000	0.64402	D	0.000001	D	0.92407	0.7590	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94547	0.7750	9	.	.	.	-5.0325	14.4641	0.67472	0.0:0.0:0.0:1.0	.	362	P53582	AMPM1_HUMAN	R	362;312;146;92	ENSP00000296411:L362R;ENSP00000440993:L312R;ENSP00000423071:L146R;ENSP00000422689:L92R	.	L	+	2	0	METAP1	100201415	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	7.672000	0.83956	1.989000	0.58080	0.533000	0.62120	CTG		PASS	0.517	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		53	18	53	18	---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110384608	110384608	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:110384608G>A	ENST00000265175.5	+	2	740	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	SEC24B_ENST00000504968.2_Missense_Mutation_p.G260S|SEC24B_ENST00000399100.2_Missense_Mutation_p.G229S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	229					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.G229S(2)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCATTCTCTGGTCAAAATAC	0.453																																						uc003hzk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(685-687)GGT>AGT		SEC24 (S. cerevisiae) homolog B isoform a							145.0	150.0	148.0					4																	110384608		2166	4269	6435	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384608G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.685G>A	4.37:g.110384608G>A	ENSP00000265175:p.Gly229Ser					SEC24B_uc003hzl.2_Missense_Mutation_p.G229S|SEC24B_uc011cfp.1_Missense_Mutation_p.G260S|SEC24B_uc011cfq.1_Missense_Mutation_p.G229S|SEC24B_uc011cfr.1_Missense_Mutation_p.G229S	p.G229S	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	740	+		Hepatocellular(203;0.217)	229					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.685G>A	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816413	0.32145	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77877	-0.93;-1.13;-1.11	5.57	3.86	0.44501	.	0.629428	0.16554	N	0.209338	T	0.56746	0.2006	N	0.14661	0.345	0.32973	D	0.522662	B;B;B;B	0.27971	0.124;0.074;0.196;0.012	B;B;B;B	0.23150	0.02;0.02;0.044;0.008	T	0.57021	-0.7882	10	0.20519	T	0.43	-11.4237	7.1225	0.25453	0.3144:0.0:0.6856:0.0	.	179;260;229;229	B4DTM6;B7ZKM8;O95487-2;O95487	.;.;.;SC24B_HUMAN	S	260;229;229	ENSP00000428564:G260S;ENSP00000382051:G229S;ENSP00000265175:G229S	ENSP00000265175:G229S	G	+	1	0	SEC24B	110604057	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	2.261000	0.43276	0.728000	0.32382	0.591000	0.81541	GGT		PASS	0.453	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			38	24	38	24	---	---	---	---
UGT8	7368	broad.mit.edu	37	4	115544082	115544083	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:115544082_115544083GG>AT	ENST00000310836.6	+	2	568_569	c.46_47GG>AT	c.(46-48)GGg>ATg	p.G16M	UGT8_ENST00000394511.3_Missense_Mutation_p.G16M	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	16					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.G16R(1)|p.G16V(1)|p.G16M(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GAGTGCTGTTGGGATAGCGAAG	0.421																																						uc003ibs.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(46-48)GGG>AGG|c.(46-48)GGG>GTG		UDP-galactose-ceramide galactosyltransferase 8																																				SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544082G>A|g.chr4:115544083G>T	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	Exception_encountered	4.37:g.115544082_115544083delinsAT	ENSP00000311648:p.Gly16Met					UGT8_uc003ibt.2_Missense_Mutation_p.G16R|UGT8_uc011cge.1_RNA|UGT8_uc003ibt.2_Missense_Mutation_p.G16V|UGT8_uc011cge.1_RNA	p.G16R|p.G16V	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	568|569	+		Ovarian(17;0.156)	16					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.46G>A|c.47G>T	CCDS3705.1																																																																																				PASS	0.421	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		26	5	26	5	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115858509	115858509	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:115858509G>T	ENST00000264363.2	-	5	2050	c.1372C>A	c.(1372-1374)Cgg>Agg	p.R458R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	458	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.R458R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTCTGTACCGGGCAGGTTTC	0.458																																						uc003ibu.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1372-1374)CGG>AGG		heparan sulfate N-deacetylase/N-sulfotransferase							180.0	170.0	174.0					4																	115858509		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858509G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1372C>A	4.37:g.115858509G>T						NDST4_uc010imw.2_RNA	p.R458R	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	2051	-		Ovarian(17;0.156)	458			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1372C>A	CCDS3706.1																																																																																				PASS	0.458	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		28	14	28	14	---	---	---	---
NDNF	79625	broad.mit.edu	37	4	121961197	121961197	+	Silent	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:121961197C>G	ENST00000379692.4	-	3	727	c.201G>C	c.(199-201)gtG>gtC	p.V67V	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	67					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.V67V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CTTCTTCAACCACAAAGAAAT	0.443																																						uc003idq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(199-201)GTG>GTC		hypothetical protein LOC79625 precursor							106.0	101.0	103.0					4																	121961197		1873	4124	5997	SO:0001819	synonymous_variant	79625							g.chr4:121961197C>G	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.201G>C	4.37:g.121961197C>G							p.V67V	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			3	728	-			67					A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.201G>C	CCDS3717.2																																																																																				PASS	0.443	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		26	15	26	15	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147561088	147561088	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:147561088G>A	ENST00000281321.3	+	2	606	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	120					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V120I(2)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGTGGACATCGTCTCCCAGAG	0.592																																						uc003ikv.2																			2	Substitution - Missense(2)		NS(1)|lung(1)	breast(1)	1						c.(358-360)GTC>ATC		Brn3b POU domain transcription factor							93.0	123.0	113.0					4																	147561088		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561088G>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.358G>A	4.37:g.147561088G>A	ENSP00000281321:p.Val120Ile						p.V120I	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	606	+	all_hematologic(180;0.151)		120					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.358G>A	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178423	0.57692	.	.	ENSG00000151615	ENST00000281321	T	0.81247	-1.47	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	L	0.52011	1.625	0.54753	D	0.999987	D	0.55605	0.972	B	0.39805	0.31	T	0.78329	-0.2246	10	0.41790	T	0.15	.	18.5575	0.91090	0.0:0.0:1.0:0.0	.	120	Q12837	PO4F2_HUMAN	I	120	ENSP00000281321:V120I	ENSP00000281321:V120I	V	+	1	0	POU4F2	147780538	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.633000	0.98432	2.676000	0.91093	0.563000	0.77884	GTC		PASS	0.592	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		3	30	3	30	---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154217020	154217020	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:154217020G>A	ENST00000437508.2	+	6	1462	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	TRIM2_ENST00000338700.5_Missense_Mutation_p.V448M|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	421					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.V448M(1)|p.V421M(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)		TAAGCTGAAAGTGATCCGATC	0.542																																						uc003ing.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1261-1263)GTG>ATG		tripartite motif-containing 2 isoform 2							90.0	87.0	88.0					4																	154217020		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154217020G>A	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.1261G>A	4.37:g.154217020G>A	ENSP00000415812:p.Val421Met					TRIM2_uc003inh.2_Missense_Mutation_p.V448M	p.V421M	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1462	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	421			Filamin.		D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1261G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822249	0.50739	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.61859	0.07;0.07	5.59	5.59	0.84812	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.110117	0.64402	D	0.000008	T	0.40956	0.1138	N	0.08118	0	0.49798	D	0.999823	P;P	0.47350	0.894;0.826	B;B	0.41813	0.367;0.367	T	0.51084	-0.8750	10	0.66056	D	0.02	-3.1522	15.2217	0.73316	0.0:0.0:0.8588:0.1412	.	448;421	D3DP09;Q9C040	.;TRIM2_HUMAN	M	421;448	ENSP00000415812:V421M;ENSP00000339659:V448M	ENSP00000339659:V448M	V	+	1	0	TRIM2	154436470	1.000000	0.71417	0.985000	0.45067	0.883000	0.51084	6.169000	0.71913	2.641000	0.89580	0.561000	0.74099	GTG		PASS	0.542	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			25	9	25	9	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155507571	155507571	+	Missense_Mutation	SNP	C	C	A	rs145956993		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:155507571C>A	ENST00000302053.3	-	5	1088	c.1010G>T	c.(1009-1011)gGg>gTg	p.G337V	FGA_ENST00000403106.3_Missense_Mutation_p.G337V	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	337					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.G337V(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCAGAGCTCCCAGAGTTCCA	0.567																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1009-1011)GGG>GTG		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						89.0	96.0	94.0					4																	155507571		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507571C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1010G>T	4.37:g.155507571C>A	ENSP00000306361:p.Gly337Val					FGA_uc003ioe.1_Missense_Mutation_p.G337V|FGA_uc003iof.1_Intron	p.G337V	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1068	-	all_hematologic(180;0.215)	Renal(120;0.0458)	337			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1010G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545670	0.65198	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.85013	-1.93;-1.93	5.25	1.43	0.22495	.	2.307300	0.02537	N	0.094245	D	0.91700	0.7376	M	0.83384	2.64	0.20489	N	0.999899	P;D	0.76494	0.492;0.999	B;D	0.66196	0.171;0.942	T	0.69881	-0.5025	10	0.46703	T	0.11	.	5.6007	0.17351	0.1364:0.6241:0.0:0.2394	.	337;337	P02671-2;P02671	.;FIBA_HUMAN	V	337	ENSP00000306361:G337V;ENSP00000385981:G337V	ENSP00000306361:G337V	G	-	2	0	FGA	155727021	0.094000	0.21725	0.002000	0.10522	0.368000	0.29767	1.578000	0.36525	0.182000	0.20032	0.650000	0.86243	GGG		PASS	0.567	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		75	19	75	19	---	---	---	---
NPY5R	4889	broad.mit.edu	37	4	164271880	164271880	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:164271880C>T	ENST00000515560.1	+	4	1977	c.455C>T	c.(454-456)aCa>aTa	p.T152I	NPY5R_ENST00000506953.1_Missense_Mutation_p.T152I|NPY5R_ENST00000338566.3_Missense_Mutation_p.T152I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	152					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.T152I(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AATAATTTAACAGCAAACCAT	0.358																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|skin(1)	7						c.(454-456)ACA>ATA		neuropeptide Y receptor Y5							191.0	194.0	193.0					4																	164271880		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271880C>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.455C>T	4.37:g.164271880C>T	ENSP00000423917:p.Thr152Ile						p.T152I	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	637	+	all_hematologic(180;0.166)	Prostate(90;0.109)	152			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.455C>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558913	0.65538	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.45668	0.89;0.89;0.89	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.68375	0.2994	M	0.86864	2.845	0.50632	D	0.999889	D	0.69078	0.997	P	0.62382	0.901	T	0.75391	-0.3334	10	0.87932	D	0	.	18.9152	0.92503	0.0:1.0:0.0:0.0	.	152	Q15761	NPY5R_HUMAN	I	152	ENSP00000339377:T152I;ENSP00000423917:T152I;ENSP00000423474:T152I	ENSP00000339377:T152I	T	+	2	0	NPY5R	164491330	1.000000	0.71417	0.594000	0.28785	0.965000	0.64279	5.487000	0.66863	2.533000	0.85409	0.591000	0.81541	ACA		PASS	0.358	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		75	44	75	44	---	---	---	---
ACSL1	2180	broad.mit.edu	37	4	185694258	185694258	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:185694258A>G	ENST00000515030.1	-	10	1217	c.892T>C	c.(892-894)Tca>Cca	p.S298P	ACSL1_ENST00000504900.1_Missense_Mutation_p.S298P|ACSL1_ENST00000513317.1_Missense_Mutation_p.S298P|ACSL1_ENST00000437665.3_Missense_Mutation_p.S127P|ACSL1_ENST00000507295.1_Missense_Mutation_p.S264P|ACSL1_ENST00000454703.2_Missense_Mutation_p.S127P|ACSL1_ENST00000504342.1_Missense_Mutation_p.S298P|ACSL1_ENST00000281455.2_Missense_Mutation_p.S298P			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	298					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.S298P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACAAAAGCTGAACAATCGCTC	0.423																																						uc003iww.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(892-894)TCA>CCA		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						127.0	115.0	119.0					4																	185694258		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185694258A>G	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.892T>C	4.37:g.185694258A>G	ENSP00000422607:p.Ser298Pro					ACSL1_uc011ckm.1_Missense_Mutation_p.S127P|ACSL1_uc003iwt.1_Missense_Mutation_p.S298P|ACSL1_uc003iwu.1_Missense_Mutation_p.S298P|ACSL1_uc011ckn.1_Missense_Mutation_p.S264P|ACSL1_uc003iwv.1_Missense_Mutation_p.S298P|ACSL1_uc010ise.1_RNA	p.S298P	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	10	1186	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	298			Cytoplasmic (Potential).		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.892T>C	CCDS3839.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.163518|4.163518	0.78226|0.78226	.|.	.|.	ENSG00000151726|ENSG00000151726	ENST00000505492|ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317;ENST00000504900	.|T;T;T;T;T;T;T;T	.|0.11063	.|2.81;2.81;2.81;2.81;2.81;2.81;2.81;2.81	5.82|5.82	5.82|5.82	0.92795|0.92795	.|AMP-dependent synthetase/ligase (1);	.|0.124530	.|0.56097	.|D	.|0.000033	T|T	0.33381|0.33381	0.0861|0.0861	M|M	0.82056|0.82056	2.57|2.57	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.58268	.|0.982;0.978;0.981;0.978	.|P;P;D;P	.|0.69142	.|0.863;0.905;0.962;0.905	T|T	0.07195|0.07195	-1.0785|-1.0785	5|10	.|0.72032	.|D	.|0.01	-15.8532|-15.8532	12.0795|12.0795	0.53663|0.53663	0.8565:0.1435:0.0:0.0|0.8565:0.1435:0.0:0.0	.|.	.|264;298;298;298	.|E7EPM6;B7Z452;D6RER0;P33121	.|.;.;.;ACSL1_HUMAN	S|P	45|127;298;298;264;127;298;298;298	.|ENSP00000407165:S127P;ENSP00000422607:S298P;ENSP00000281455:S298P;ENSP00000426244:S264P;ENSP00000405687:S127P;ENSP00000425006:S298P;ENSP00000426150:S298P;ENSP00000424935:S298P	.|ENSP00000281455:S298P	F|S	-|-	2|1	0|0	ACSL1|ACSL1	185931252|185931252	0.998000|0.998000	0.40836|0.40836	0.994000|0.994000	0.49952|0.49952	0.959000|0.959000	0.62525|0.62525	3.748000|3.748000	0.55142|0.55142	2.225000|2.225000	0.72522|0.72522	0.477000|0.477000	0.44152|0.44152	TTC|TCA		PASS	0.423	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		6	4	6	4	---	---	---	---
TRIML1	339976	broad.mit.edu	37	4	189065190	189065190	+	Splice_Site	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr4:189065190G>T	ENST00000332517.3	+	5	899	c.759G>T	c.(757-759)agG>agT	p.R253S	TRIML1_ENST00000507581.1_3'UTR|RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	253					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R253S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCTCTTGCAGGAGCGAGCCAC	0.572																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(757-759)AGG>AGT		tripartite motif family-like 1							56.0	57.0	56.0					4																	189065190		2203	4300	6503	SO:0001630	splice_region_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189065190G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.759-1G>T	4.37:g.189065190G>T						TRIML1_uc003izn.1_5'UTR	p.R253S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	874	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	253					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.759G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.057774	0.36277	.	.	ENSG00000184108	ENST00000332517	T	0.04862	3.54	5.29	5.29	0.74685	.	0.224335	0.32204	N	0.006423	T	0.28067	0.0692	M	0.85630	2.765	0.43512	D	0.995772	D	0.71674	0.998	D	0.78314	0.991	T	0.00405	-1.1760	9	.	.	.	.	14.6604	0.68868	0.0:0.0:1.0:0.0	.	253	Q8N9V2	TRIML_HUMAN	S	253	ENSP00000327738:R253S	.	R	+	3	2	TRIML1	189302184	0.999000	0.42202	0.978000	0.43139	0.075000	0.17131	1.389000	0.34453	2.928000	0.99379	0.639000	0.83563	AGG		PASS	0.572	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	Missense_Mutation	7	4	7	4	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5237172	5237172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:5237172C>A	ENST00000274181.7	+	14	2252	c.2114C>A	c.(2113-2115)tCg>tAg	p.S705*	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	705	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S705*(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACTCCATGCTCGGAGGATAGC	0.383																																						uc003jdl.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2113-2115)TCG>TAG		ADAM metallopeptidase with thrombospondin type 1							145.0	136.0	139.0					5																	5237172		1891	4113	6004	SO:0001587	stop_gained	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237172C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2114C>A	5.37:g.5237172C>A	ENSP00000274181:p.Ser705*					ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.S705*|ADAMTS16_uc010itk.1_Intron	p.S705*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			14	2252	+			705			Cys-rich.		C6G490|Q8IVE2	Nonsense_Mutation	SNP	ENST00000274181.7	37	c.2114C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	41	9.061430	0.99053	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	18.6706	0.91510	0.0:1.0:0.0:0.0	.	.	.	.	X	705	.	ENSP00000274181:S705X	S	+	2	0	ADAMTS16	5290172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.335000	0.65929	2.708000	0.92522	0.655000	0.94253	TCG		PASS	0.383	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		29	69	29	69	---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6600126	6600126	+	Silent	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:6600126T>A	ENST00000264670.6	-	19	2528	c.2217A>T	c.(2215-2217)ggA>ggT	p.G739G	NSUN2_ENST00000539938.1_Silent_p.G503G|NSUN2_ENST00000506139.1_Silent_p.G704G	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	739					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.G739G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TGTTGGGCTCTCCTGCTCTCT	0.592																																						uc003jdu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2215-2217)GGA>GGT		NOL1/NOP2/Sun domain family, member 2							188.0	148.0	162.0					5																	6600126		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6600126T>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.2217A>T	5.37:g.6600126T>A						NSUN2_uc003jds.2_Silent_p.G185G|NSUN2_uc003jdt.2_Silent_p.G503G|NSUN2_uc011cmk.1_Silent_p.G704G|NSUN2_uc003jdv.2_Silent_p.G503G	p.G739G	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			19	2282	-			739					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.2217A>T	CCDS3869.1																																																																																				PASS	0.592	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		43	36	43	36	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10402206	10402206	+	Silent	SNP	C	C	T	rs578040512		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:10402206C>T	ENST00000274140.5	+	12	1140	c.1008C>T	c.(1006-1008)acC>acT	p.T336T	MARCH6_ENST00000449913.2_Silent_p.T288T|MARCH6_ENST00000503788.1_Silent_p.T231T|MARCH6_ENST00000510792.1_Silent_p.T34T	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	336					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.T336T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TAATCACAACCATAGTTGGGT	0.323																																						uc003jet.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1006-1008)ACC>ACT		membrane-associated ring finger (C3HC4) 6							104.0	105.0	105.0					5																	10402206		2202	4300	6502	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10402206C>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.1008C>T	5.37:g.10402206C>T						MARCH6_uc011cmu.1_Silent_p.T288T|MARCH6_uc003jeu.1_Silent_p.T34T|MARCH6_uc011cmv.1_Silent_p.T231T	p.T336T	NM_005885	NP_005876	O60337	MARH6_HUMAN			12	1191	+			336			Extracellular (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1008C>T	CCDS34135.1																																																																																				PASS	0.323	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		23	31	23	31	---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15936631	15936631	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:15936631A>G	ENST00000504595.1	+	4	1293	c.812A>G	c.(811-813)cAg>cGg	p.Q271R	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.Q224R|FBXL7_ENST00000329673.7_Missense_Mutation_p.Q259R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	271					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.Q271R(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CATGGCAAACAGATTTCCATC	0.572																																						uc003jfn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(811-813)CAG>CGG		F-box and leucine-rich repeat protein 7							72.0	73.0	73.0					5																	15936631		2165	4264	6429	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936631A>G	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.812A>G	5.37:g.15936631A>G	ENSP00000423630:p.Gln271Arg						p.Q271R	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1293	+			271			LRR 4.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.812A>G	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	A	6.514	0.463122	0.12402	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.52754	0.65;0.65;0.65	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	N	0.08118	0	0.80722	D	1	B	0.14805	0.011	B	0.12156	0.007	T	0.09975	-1.0650	10	0.15952	T	0.53	.	14.9974	0.71443	1.0:0.0:0.0:0.0	.	271	Q9UJT9	FBXL7_HUMAN	R	271;224;259	ENSP00000423630:Q271R;ENSP00000425184:Q224R;ENSP00000329632:Q259R	ENSP00000329632:Q259R	Q	+	2	0	FBXL7	15989631	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.955000	0.56771	0.533000	0.62120	CAG		PASS	0.572	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		8	23	8	23	---	---	---	---
BASP1	10409	broad.mit.edu	37	5	17275828	17275828	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:17275828C>A	ENST00000322611.3	+	2	763	c.503C>A	c.(502-504)cCa>cAa	p.P168Q		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	168					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P168Q(1)		endometrium(1)|lung(8)	9						GACGGGGCCCCAGCTTCAGAC	0.677																																						uc003jfx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)CCA>CAA		brain abundant, membrane attached signal protein							7.0	9.0	9.0					5																	17275828		2127	4208	6335	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275828C>A	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.503C>A	5.37:g.17275828C>A	ENSP00000319281:p.Pro168Gln						p.P168Q	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	682	+			168					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.503C>A	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696869	0.48202	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.62498	0.02	4.51	3.63	0.41609	.	0.000000	0.50627	U	0.000102	T	0.65760	0.2722	L	0.34521	1.04	0.46981	D	0.999279	D	0.69078	0.997	P	0.62740	0.906	T	0.67677	-0.5609	10	0.87932	D	0	-3.5242	11.1927	0.48693	0.0:0.9088:0.0:0.0912	.	168	P80723	BASP1_HUMAN	Q	168;114	ENSP00000319281:P168Q	ENSP00000319281:P168Q	P	+	2	0	BASP1	17328828	1.000000	0.71417	0.893000	0.35052	0.835000	0.47333	3.135000	0.50546	0.885000	0.36088	0.491000	0.48974	CCA		PASS	0.677	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			7	5	7	5	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19473458	19473458	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:19473458G>A	ENST00000507958.1	-	15	3240	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	CDH18_ENST00000274170.4_Silent_p.I750I|CDH18_ENST00000382275.1_Silent_p.I750I|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	750					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.I750I(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCAGCGAGCTGATAGACCCAG	0.483																																						uc003jgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2248-2250)ATC>ATT		cadherin 18, type 2 preproprotein							101.0	102.0	102.0					5																	19473458		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473458G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2250C>T	5.37:g.19473458G>A						CDH18_uc003jgd.2_Silent_p.I750I|CDH18_uc011cnm.1_3'UTR	p.I750I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2627	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		750			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.2250C>T	CCDS3889.1																																																																																				PASS	0.483	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		28	31	28	31	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975299	21975299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:21975299C>A	ENST00000382254.1	-	6	1513	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.E143*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.E143*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	143	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.E143*(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						AATTCTGATTCAGGCTCCAGG	0.433										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(427-429)GAA>TAA		cadherin 12, type 2 preproprotein							37.0	40.0	39.0					5																	21975299		2022	3849	5871	SO:0001587	stop_gained	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975299C>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.427G>T	5.37:g.21975299C>A	ENSP00000371689:p.Glu143*	HNSCC(59;0.17)				CDH12_uc011cno.1_Nonsense_Mutation_p.E143*|CDH12_uc003jgk.2_Nonsense_Mutation_p.E143*	p.E143*	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	885	-			143			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	c.427G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	42	9.795527	0.99266	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	.	.	.	X	143	.	ENSP00000371689:E143X	E	-	1	0	CDH12	22011056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.678000	0.68153	2.414000	0.81942	0.484000	0.47621	GAA		PASS	0.433	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		18	60	18	60	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975442	21975442	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:21975442C>A	ENST00000382254.1	-	6	1370	c.284G>T	c.(283-285)gGa>gTa	p.G95V	CDH12_ENST00000504376.2_Missense_Mutation_p.G95V|CDH12_ENST00000522262.1_Missense_Mutation_p.G95V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	95	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.G95V(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						AGCGCCATCTCCTGAGAGGGT	0.468										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(283-285)GGA>GTA		cadherin 12, type 2 preproprotein							62.0	63.0	62.0					5																	21975442		2042	3877	5919	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975442C>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.284G>T	5.37:g.21975442C>A	ENSP00000371689:p.Gly95Val	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.G95V|CDH12_uc003jgk.2_Missense_Mutation_p.G95V	p.G95V	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	742	-			95			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.284G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480991	0.84747	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.63417	-0.04;-0.04;-0.04	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87533	0.6201	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92386	0.5917	10	0.87932	D	0	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	95;95	B7Z2U6;P55289	.;CAD12_HUMAN	V	95	ENSP00000423577:G95V;ENSP00000371689:G95V;ENSP00000428786:G95V	ENSP00000371689:G95V	G	-	2	0	CDH12	22011199	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.397000	0.79903	2.414000	0.81942	0.484000	0.47621	GGA		PASS	0.468	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		27	88	27	88	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26916021	26916021	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:26916021G>A	ENST00000231021.4	-	3	412	c.240C>T	c.(238-240)gaC>gaT	p.D80D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	80	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D80D(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTTATCTTGGTCAGTGTGAA	0.338																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(238-240)GAC>GAT		cadherin 9, type 2 preproprotein							64.0	65.0	65.0					5																	26916021		2203	4298	6501	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26916021G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.240C>T	5.37:g.26916021G>A						CDH9_uc010iug.2_Silent_p.D80D	p.D80D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	409	-			80			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.240C>T	CCDS3893.1																																																																																				PASS	0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		36	37	36	37	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33588736	33588736	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:33588736G>T	ENST00000504830.1	-	18	3168	c.2833C>A	c.(2833-2835)Ccc>Acc	p.P945T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P860T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	945	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P945T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGTCCGAGGGGCACAGGATG	0.597										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2833-2835)CCC>ACC		ADAM metallopeptidase with thrombospondin type 1							157.0	158.0	158.0					5																	33588736		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33588736G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2833C>A	5.37:g.33588736G>T	ENSP00000422554:p.Pro945Thr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.P860T	p.P945T	NM_030955	NP_112217	P58397	ATS12_HUMAN			18	2996	-			945			TSP type-1 4.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2833C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651889	0.88056	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.18;0.18	6.08	6.08	0.98989	.	0.102804	0.64402	D	0.000002	T	0.76593	0.4009	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.984;0.994	T	0.75608	-0.3259	10	0.62326	D	0.03	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	860;945	P58397-3;P58397	.;ATS12_HUMAN	T	945;860	ENSP00000422554:P945T;ENSP00000344847:P860T	ENSP00000344847:P860T	P	-	1	0	ADAMTS12	33624493	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.874000	0.75546	2.894000	0.99253	0.591000	0.81541	CCC		PASS	0.597	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		30	121	30	121	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33637841	33637841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:33637841C>A	ENST00000504830.1	-	12	2064	c.1729G>T	c.(1729-1731)Gga>Tga	p.G577*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.G577*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	577	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G577*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TATTTCCCTCCAAACTTTGGC	0.463										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1729-1731)GGA>TGA		ADAM metallopeptidase with thrombospondin type 1							87.0	81.0	83.0					5																	33637841		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33637841C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1729G>T	5.37:g.33637841C>A	ENSP00000422554:p.Gly577*	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.G577*	p.G577*	NM_030955	NP_112217	P58397	ATS12_HUMAN			12	1892	-			577			TSP type-1 1.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.1729G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	44	10.736183	0.99459	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.6398	0.99548	0.0:1.0:0.0:0.0	.	.	.	.	X	577	.	ENSP00000344847:G577X	G	-	1	0	ADAMTS12	33673598	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.626000	0.83164	2.881000	0.98747	0.650000	0.86243	GGA		PASS	0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		21	21	21	21	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37006572	37006572	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:37006572G>T	ENST00000282516.8	+	17	4468	c.3969G>T	c.(3967-3969)atG>atT	p.M1323I	NIPBL_ENST00000448238.2_Missense_Mutation_p.M1323I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1323					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.M1323I(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCCCTAACATGCCAAAAGCTG	0.353																																						uc003jkl.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	GRCh37	CI042662	NIPBL	I		c.(3967-3969)ATG>ATT		delangin isoform A							117.0	110.0	112.0					5																	37006572		2203	4299	6502	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37006572G>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3969G>T	5.37:g.37006572G>T	ENSP00000282516:p.Met1323Ile					NIPBL_uc003jkk.3_Missense_Mutation_p.M1323I	p.M1323I	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		17	4468	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1323					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3969G>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811504	0.90707	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.57273	0.41;0.41	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.74647	2.275	0.80722	D	1	D;D	0.62365	0.985;0.991	P;D	0.66497	0.88;0.944	T	0.73770	-0.3878	10	0.54805	T	0.06	.	19.6236	0.95670	0.0:0.0:1.0:0.0	.	1323;1323	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	1323	ENSP00000282516:M1323I;ENSP00000406266:M1323I	ENSP00000282516:M1323I	M	+	3	0	NIPBL	37042329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.442000	0.97566	2.643000	0.89663	0.555000	0.69702	ATG		PASS	0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		24	29	24	29	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39203058	39203058	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:39203058G>A	ENST00000351578.6	-	2	195	c.5C>T	c.(4-6)gCg>gTg	p.A2V	FYB_ENST00000505428.1_Missense_Mutation_p.A2V|FYB_ENST00000515010.1_Missense_Mutation_p.A2V|FYB_ENST00000540520.1_Missense_Mutation_p.A12V|FYB_ENST00000512982.1_Missense_Mutation_p.A2V	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	2					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.A2V(3)|p.A12V(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTTATATTTCGCCATGAGGGA	0.438																																						uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(4-6)GCG>GTG		FYN binding protein (FYB-120/130) isoform 2							85.0	79.0	81.0					5																	39203058		1858	4095	5953	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39203058G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.5C>T	5.37:g.39203058G>A	ENSP00000316460:p.Ala2Val					FYB_uc003jlt.2_Missense_Mutation_p.A2V|FYB_uc003jlu.2_Missense_Mutation_p.A2V|FYB_uc011cpl.1_Missense_Mutation_p.A12V	p.A2V	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	72	-	all_lung(31;0.000343)		2					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.5C>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959838	0.92791	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542;ENST00000510188;ENST00000512138;ENST00000506557;ENST00000509072	T;T;T;T;T;T;T	0.59364	1.37;1.37;1.4;1.4;1.4;0.27;0.53	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000005	T	0.75989	0.3925	M	0.73598	2.24	0.50813	D	0.999897	D;D	0.89917	1.0;1.0	D;D	0.72338	0.918;0.977	T	0.76764	-0.2839	10	0.66056	D	0.02	-15.2566	16.797	0.85605	0.0:0.0:0.8707:0.1293	.	12;2	B4DLN2;O15117	.;FYB_HUMAN	V	2;2;2;2;12;2;2;2;2;2	ENSP00000316460:A2V;ENSP00000426346:A2V;ENSP00000425845:A2V;ENSP00000427114:A2V;ENSP00000442840:A12V;ENSP00000426597:A2V;ENSP00000424919:A2V	ENSP00000316460:A2V	A	-	2	0	FYB	39238815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.988000	0.63863	2.941000	0.99782	0.655000	0.94253	GCG		PASS	0.438	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		16	59	16	59	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41000935	41000935	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:41000935C>A	ENST00000399564.4	-	38	4645	c.4195G>T	c.(4195-4197)Gag>Tag	p.E1399*	MROH2B_ENST00000506092.2_Splice_Site_p.E954*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1399								p.E1399*(1)									TCATCCTGCTCCTGTGGTGAC	0.473																																						uc003jmj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(4195-4197)GAG>TAG		HEAT repeat family member 7B2							52.0	53.0	53.0					5																	41000935		2107	4242	6349	SO:0001630	splice_region_variant	133558						binding	g.chr5:41000935C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4195-1G>T	5.37:g.41000935C>A						HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.E954*	p.E1399*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			38	4685	-			1399			HEAT 15.		Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.4195G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	44	10.559694	0.99427	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	5.56	5.56	0.83823	.	0.093205	0.47093	D	0.000257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	15.4161	0.74970	0.0:1.0:0.0:0.0	.	.	.	.	X	954;1104;1399	.	ENSP00000296803:E1104X	E	-	1	0	HEATR7B2	41036692	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.837000	0.55820	2.783000	0.95769	0.655000	0.94253	GAG		PASS	0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	Nonsense_Mutation	3	6	3	6	---	---	---	---
ANKRD55	79722	broad.mit.edu	37	5	55396067	55396067	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:55396067G>A	ENST00000341048.4	-	12	1939	c.1788C>T	c.(1786-1788)caC>caT	p.H596H	ANKRD55_ENST00000504958.2_Silent_p.H553H|ANKRD55_ENST00000434982.2_Silent_p.H308H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	596								p.H596H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTGCTGTGCTGTGTCTTCGTT	0.443																																						uc003jqu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1786-1788)CAC>CAT		ankyrin repeat domain 55 isoform 1							223.0	189.0	200.0					5																	55396067		2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55396067G>A	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1788C>T	5.37:g.55396067G>A						ANKRD55_uc003jqt.2_Silent_p.H308H	p.H596H	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			12	1940	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	595					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.1788C>T	CCDS34161.1																																																																																				PASS	0.443	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		8	88	8	88	---	---	---	---
ERCC8	1161	broad.mit.edu	37	5	60194177	60194177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:60194177C>A	ENST00000265038.5	-	9	811	c.769G>T	c.(769-771)Gga>Tga	p.G257*	ERCC8_ENST00000543101.1_Nonsense_Mutation_p.G104*|ERCC8_ENST00000426742.2_Nonsense_Mutation_p.G199*|ERCC8_ENST00000462279.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	257					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)	p.G257*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				AGGTGAAGTCCATCACTTGTA	0.353																																						uc003jsm.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(769-771)GGA>TGA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							101.0	96.0	98.0					5																	60194177		2203	4300	6503	SO:0001587	stop_gained	1161				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding	g.chr5:60194177C>A	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.769G>T	5.37:g.60194177C>A	ENSP00000265038:p.Gly257*					ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Nonsense_Mutation_p.G199*|ERCC8_uc011cqp.1_Nonsense_Mutation_p.G104*	p.G257*	NM_000082	NP_000073	Q13216	ERCC8_HUMAN			9	839	-		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)	257			WD 4.		B2RB64|Q6FHX5|Q96GB9	Nonsense_Mutation	SNP	ENST00000265038.5	37	c.769G>T	CCDS3978.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929952	0.92389	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.115	18.3601	0.90372	0.0:1.0:0.0:0.0	.	.	.	.	X	199;257;104;256	.	ENSP00000265038:G257X	G	-	1	0	ERCC8	60229934	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.184000	0.77705	2.303000	0.77524	0.655000	0.94253	GGA		PASS	0.353	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082		32	14	32	14	---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61783622	61783622	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:61783622G>C	ENST00000325324.6	+	13	1412	c.1243G>C	c.(1243-1245)Gat>Cat	p.D415H	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.D455H	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	415					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.D415H(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ATTATTTATAGATATATTCCA	0.294																																						uc003jtc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)	4						c.(1243-1245)GAT>CAT		Ran binding protein 11 isoform 2							68.0	73.0	71.0					5																	61783622		2203	4290	6493	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61783622G>C	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1243G>C	5.37:g.61783622G>C	ENSP00000316651:p.Asp415His					IPO11_uc011cqr.1_Missense_Mutation_p.D455H|IPO11_uc003jtb.1_Missense_Mutation_p.D415H	p.D415H	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	13	1433	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	415					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.1243G>C	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274396	0.80580	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.53857	0.6;0.6	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.61703	1.905	0.80722	D	1	P;P	0.51057	0.941;0.844	P;B	0.49887	0.625;0.268	T	0.63211	-0.6688	10	0.44086	T	0.13	.	18.6513	0.91431	0.0:0.0:1.0:0.0	.	455;415	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	H	415;455	ENSP00000316651:D415H;ENSP00000386992:D455H	ENSP00000316651:D415H	D	+	1	0	IPO11	61819379	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.580000	0.90784	2.380000	0.81148	0.655000	0.94253	GAT		PASS	0.294	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		60	24	60	24	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65288601	65288601	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:65288601G>A	ENST00000284037.5	+	3	444	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.G19R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.G19R|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.G19R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.G19R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.G19R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.G19R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.G19R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.G19R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.G19R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	19					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.G19R(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTCTACGAGGGGAAGAGGA	0.363																																						uc003juk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|central_nervous_system(2)	7						c.(55-57)GGG>AGG		ERBB2 interacting protein isoform 2							135.0	134.0	135.0					5																	65288601		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65288601G>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.55G>A	5.37:g.65288601G>A	ENSP00000284037:p.Gly19Arg					ERBB2IP_uc003juh.1_Missense_Mutation_p.G19R|ERBB2IP_uc003jui.1_Missense_Mutation_p.G19R|ERBB2IP_uc003juj.1_Missense_Mutation_p.G19R|ERBB2IP_uc011cqx.1_Missense_Mutation_p.G19R|ERBB2IP_uc011cqy.1_Missense_Mutation_p.G19R|ERBB2IP_uc011cqz.1_Missense_Mutation_p.G19R|ERBB2IP_uc010iwx.1_Missense_Mutation_p.G19R|ERBB2IP_uc003jul.1_Missense_Mutation_p.G19R	p.G19R	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	3	363	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	19					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.55G>A	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982139	0.93044	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.40225	1.24;1.24;1.41;1.25;1.44;1.04;1.33;1.24;1.28;1.04	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	N	0.19112	0.55	0.80722	D	1	B;D;P;D;D;D;P;D	0.89917	0.27;1.0;0.454;1.0;1.0;1.0;0.729;1.0	B;D;B;D;D;D;B;D	0.97110	0.119;1.0;0.277;1.0;1.0;0.999;0.437;1.0	T	0.57423	-0.7814	10	0.56958	D	0.05	.	18.6235	0.91330	0.0:0.0:1.0:0.0	.	19;19;19;19;19;19;19;19	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	R	19	ENSP00000284037:G19R;ENSP00000370330:G19R;ENSP00000397833:G19R;ENSP00000370326:G19R;ENSP00000370323:G19R;ENSP00000370322:G19R;ENSP00000370325:G19R;ENSP00000422766:G19R;ENSP00000426632:G19R;ENSP00000422015:G19R	ENSP00000284037:G19R	G	+	1	0	ERBB2IP	65324357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.388000	0.81334	0.655000	0.94253	GGG		PASS	0.363	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		46	18	46	18	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65288623	65288623	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:65288623C>A	ENST00000284037.5	+	3	466	c.77C>A	c.(76-78)aCt>aAt	p.T26N	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.T26N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.T26N|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.T26N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.T26N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.T26N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.T26N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.T26N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.T26N|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.T26N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	26					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.T26N(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACTGTCACTACTCTTGATTAT	0.378																																						uc003juk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|central_nervous_system(2)	7						c.(76-78)ACT>AAT		ERBB2 interacting protein isoform 2							133.0	130.0	131.0					5																	65288623		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65288623C>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.77C>A	5.37:g.65288623C>A	ENSP00000284037:p.Thr26Asn					ERBB2IP_uc003juh.1_Missense_Mutation_p.T26N|ERBB2IP_uc003jui.1_Missense_Mutation_p.T26N|ERBB2IP_uc003juj.1_Missense_Mutation_p.T26N|ERBB2IP_uc011cqx.1_Missense_Mutation_p.T26N|ERBB2IP_uc011cqy.1_Missense_Mutation_p.T26N|ERBB2IP_uc011cqz.1_Missense_Mutation_p.T26N|ERBB2IP_uc010iwx.1_Missense_Mutation_p.T26N|ERBB2IP_uc003jul.1_Missense_Mutation_p.T26N	p.T26N	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	3	385	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	26			LRR 1.		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.77C>A	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348240	0.82132	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.39056	1.29;1.29;1.31;1.3;1.49;1.1;1.37;1.29;1.46;1.1	5.15	5.15	0.70609	.	0.113759	0.64402	D	0.000014	T	0.51822	0.1697	N	0.20610	0.595	0.58432	D	0.999995	P;P;P;P;D;B;P;D	0.89917	0.515;0.835;0.57;0.862;0.987;0.191;0.696;1.0	B;B;B;B;P;B;B;D	0.85130	0.209;0.39;0.096;0.367;0.719;0.1;0.358;0.997	T	0.56577	-0.7956	10	0.52906	T	0.07	.	18.6235	0.91330	0.0:1.0:0.0:0.0	.	26;26;26;26;26;26;26;26	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	N	26	ENSP00000284037:T26N;ENSP00000370330:T26N;ENSP00000397833:T26N;ENSP00000370326:T26N;ENSP00000370323:T26N;ENSP00000370322:T26N;ENSP00000370325:T26N;ENSP00000422766:T26N;ENSP00000426632:T26N;ENSP00000422015:T26N	ENSP00000284037:T26N	T	+	2	0	ERBB2IP	65324379	0.340000	0.24792	1.000000	0.80357	0.964000	0.63967	2.551000	0.45820	2.388000	0.81334	0.655000	0.94253	ACT		PASS	0.378	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		4	53	4	53	---	---	---	---
FCHO2	115548	broad.mit.edu	37	5	72348261	72348261	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:72348261C>T	ENST00000430046.2	+	13	1216	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	FCHO2_ENST00000512348.1_Missense_Mutation_p.S334L|FCHO2_ENST00000341845.6_Missense_Mutation_p.S367L	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	367					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S367L(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CCAAATAACTCACATCACACA	0.363																																						uc003kcl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1099-1101)TCA>TTA		FCH domain only 2 isoform a							91.0	86.0	87.0					5																	72348261		1853	4104	5957	SO:0001583	missense	115548							g.chr5:72348261C>T	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1100C>T	5.37:g.72348261C>T	ENSP00000393776:p.Ser367Leu					FCHO2_uc011csl.1_Missense_Mutation_p.S334L|FCHO2_uc010izb.2_5'UTR	p.S367L	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	13	1216	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	367					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.1100C>T	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205050	0.38905	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.15603	2.41;2.41;2.41	5.47	4.59	0.56863	.	0.587860	0.17080	N	0.187817	T	0.10852	0.0265	N	0.12182	0.205	0.21064	N	0.999794	B;B	0.13145	0.007;0.0	B;B	0.06405	0.002;0.0	T	0.21381	-1.0247	10	0.35671	T	0.21	-1.5985	13.3046	0.60345	0.0:0.9227:0.0:0.0773	.	334;367	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	L	367;367;334	ENSP00000393776:S367L;ENSP00000344034:S367L;ENSP00000427296:S334L	ENSP00000344034:S367L	S	+	2	0	FCHO2	72384017	0.039000	0.19947	0.236000	0.24074	0.920000	0.55202	2.611000	0.46334	1.266000	0.44231	0.650000	0.86243	TCA		PASS	0.363	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		6	0	6	0	---	---	---	---
FAM169A	26049	broad.mit.edu	37	5	74091907	74091907	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:74091907G>T	ENST00000389156.4	-	11	1298	c.1208C>A	c.(1207-1209)gCa>gAa	p.A403E	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.A343E	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	403	Asp/Glu-rich.					membrane (GO:0016020)|nucleus (GO:0005634)		p.A403E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TGCTGGCCGTGCATCTCTATC	0.428																																						uc003kdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)GCA>GAA		hypothetical protein LOC26049							216.0	205.0	209.0					5																	74091907		1975	4164	6139	SO:0001583	missense	26049							g.chr5:74091907G>T		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1208C>A	5.37:g.74091907G>T	ENSP00000373808:p.Ala403Glu					FAM169A_uc010izm.2_Missense_Mutation_p.A343E|FAM169A_uc003kdl.2_Missense_Mutation_p.A221E	p.A403E	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			11	1251	-			403			Asp/Glu-rich.		A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.1208C>A	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	G	0.208	-1.038663	0.02013	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.42131	0.98	4.53	2.7	0.31948	.	0.608195	0.14472	N	0.317481	T	0.24005	0.0581	L	0.27053	0.805	0.09310	N	1	B;B	0.26809	0.082;0.16	B;B	0.24394	0.053;0.037	T	0.20273	-1.0280	10	0.11794	T	0.64	-2.8569	6.1873	0.20503	0.2335:0.0:0.7665:0.0	.	343;403	D6RB01;Q9Y6X4	.;F169A_HUMAN	E	403;343	ENSP00000373808:A403E	ENSP00000373808:A403E	A	-	2	0	FAM169A	74127663	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	0.308000	0.19314	0.804000	0.34136	0.655000	0.94253	GCA		PASS	0.428	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			83	27	83	27	---	---	---	---
ZFYVE16	9765	broad.mit.edu	37	5	79733783	79733783	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:79733783C>T	ENST00000338008.5	+	3	1459	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P427S|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P427S	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	427					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.P427S(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGGTGGGGAACCATTCAAAGA	0.363																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1279-1281)CCA>TCA		zinc finger, FYVE domain containing 16							48.0	48.0	48.0					5																	79733783		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79733783C>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1279C>T	5.37:g.79733783C>T	ENSP00000337159:p.Pro427Ser					ZFYVE16_uc010jak.1_Missense_Mutation_p.P427S|ZFYVE16_uc003kgp.2_Missense_Mutation_p.P427S|ZFYVE16_uc003kgq.3_Missense_Mutation_p.P427S|ZFYVE16_uc003kgs.3_Missense_Mutation_p.P427S	p.P427S	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	4	1581	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	427					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.1279C>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	1.593	-0.528665	0.04112	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.34275	1.37;1.37;1.37	4.86	-1.45	0.08828	.	0.592337	0.15390	N	0.264860	T	0.14399	0.0348	N	0.17082	0.46	0.09310	N	1	B;B	0.16396	0.017;0.006	B;B	0.14023	0.01;0.005	T	0.27226	-1.0080	10	0.07990	T	0.79	-0.0013	3.4467	0.07483	0.2941:0.2712:0.0:0.4347	.	427;427	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	S	427	ENSP00000337159:P427S;ENSP00000423663:P427S;ENSP00000426848:P427S	ENSP00000337159:P427S	P	+	1	0	ZFYVE16	79769539	0.004000	0.15560	0.000000	0.03702	0.778000	0.44026	0.162000	0.16501	-0.288000	0.09051	0.561000	0.74099	CCA		PASS	0.363	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		4	38	4	38	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82789635	82789635	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:82789635G>T	ENST00000265077.3	+	5	1198	c.633G>T	c.(631-633)cgG>cgT	p.R211R	VCAN_ENST00000513984.1_Silent_p.R211R|VCAN_ENST00000512590.2_Silent_p.R163R|VCAN_ENST00000342785.4_Silent_p.R211R|VCAN_ENST00000502527.2_Silent_p.R211R|VCAN_ENST00000343200.5_Silent_p.R211R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	211	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R211R(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATCCCATCCGGGCTCCCAGAG	0.473																																						uc003kii.3																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(631-633)CGG>CGT		versican isoform 1 precursor							116.0	115.0	115.0					5																	82789635		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82789635G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.633G>T	5.37:g.82789635G>T						VCAN_uc003kij.3_Silent_p.R211R|VCAN_uc010jau.2_Silent_p.R211R|VCAN_uc003kik.3_Silent_p.R211R|VCAN_uc003kih.3_Silent_p.R211R	p.R211R	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	5	989	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	211			Link 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.633G>T	CCDS4060.1																																																																																				PASS	0.473	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		5	73	5	73	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82818033	82818033	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:82818033G>T	ENST00000265077.3	+	7	4473	c.3908G>T	c.(3907-3909)gGa>gTa	p.G1303V	VCAN_ENST00000512590.2_Missense_Mutation_p.G1255V|VCAN_ENST00000342785.4_Missense_Mutation_p.G1303V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1303	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.G1303V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAGGCCTTTGGACCTCAGGCG	0.448																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(3907-3909)GGA>GTA		versican isoform 1 precursor							62.0	64.0	63.0					5																	82818033		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82818033G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3908G>T	5.37:g.82818033G>T	ENSP00000265077:p.Gly1303Val					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G1303V|VCAN_uc003kik.3_Intron	p.G1303V	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	4264	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1303			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3908G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226127	0.01518	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.85088	-1.83;-1.92;-1.94	5.81	0.0165	0.14108	.	1.591660	0.03254	N	0.182372	T	0.73210	0.3558	N	0.25647	0.755	0.09310	N	1	B;B	0.16396	0.017;0.011	B;B	0.13407	0.009;0.006	T	0.55296	-0.8163	10	0.27082	T	0.32	.	0.8569	0.01184	0.3382:0.3042:0.2032:0.1544	.	1303;1303	P13611-3;P13611	.;CSPG2_HUMAN	V	1303;1303;1255	ENSP00000265077:G1303V;ENSP00000342768:G1303V;ENSP00000425959:G1255V	ENSP00000265077:G1303V	G	+	2	0	VCAN	82853789	0.374000	0.25081	0.008000	0.14137	0.018000	0.09664	0.927000	0.28818	0.364000	0.24374	-0.136000	0.14681	GGA		PASS	0.448	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		55	15	55	15	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82849264	82849264	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:82849264C>A	ENST00000265077.3	+	11	10140	c.9575C>A	c.(9574-9576)gCa>gAa	p.A3192E	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.A1390E|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.A1438E|VCAN_ENST00000502527.2_Missense_Mutation_p.A451E|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.A2205E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3192	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.A3192E(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACATGGGATGCAGCTGAACGG	0.483																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9574-9576)GCA>GAA		versican isoform 1 precursor							160.0	138.0	145.0					5																	82849264		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82849264C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9575C>A	5.37:g.82849264C>A	ENSP00000265077:p.Ala3192Glu					VCAN_uc003kij.3_Missense_Mutation_p.A2205E|VCAN_uc010jau.2_Missense_Mutation_p.A1438E|VCAN_uc003kik.3_Missense_Mutation_p.A451E|VCAN_uc003kil.3_Missense_Mutation_p.A1856E	p.A3192E	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	11	9931	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3192			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9575C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233553	0.95207	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	6.06	6.06	0.98353	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000008	T	0.14141	0.0342	N	0.00823	-1.155	0.43187	D	0.995014	D;P;B;D	0.89917	0.999;0.873;0.296;1.0	D;B;B;D	0.83275	0.964;0.385;0.355;0.996	T	0.60606	-0.7230	10	0.26408	T	0.33	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1438;451;2205;3192	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	E	3192;2205;1438;1390;451	ENSP00000265077:A3192E;ENSP00000340062:A2205E;ENSP00000342768:A1438E;ENSP00000425959:A1390E;ENSP00000421362:A451E	ENSP00000265077:A3192E	A	+	2	0	VCAN	82885020	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.808000	0.62583	2.882000	0.98803	0.655000	0.94253	GCA		PASS	0.483	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		6	70	6	70	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82948403	82948403	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:82948403A>G	ENST00000274341.4	-	3	1191	c.341T>C	c.(340-342)cTg>cCg	p.L114P	HAPLN1_ENST00000514416.1_Missense_Mutation_p.L114P	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	114	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.L114P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GCCTCCCTTCAGAAACACTCT	0.438																																						uc003kim.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(340-342)CTG>CCG		hyaluronan and proteoglycan link protein 1							138.0	134.0	135.0					5																	82948403		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948403A>G		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.341T>C	5.37:g.82948403A>G	ENSP00000274341:p.Leu114Pro					HAPLN1_uc003kin.2_Missense_Mutation_p.L114P	p.L114P	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	2	412	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	114			Ig-like V-type.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.341T>C	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.842036	0.71488	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	6.16	4.99	0.66335	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83936	0.5362	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86637	0.1889	10	0.87932	D	0	.	13.7864	0.63112	0.8722:0.1278:0.0:0.0	.	114	P10915	HPLN1_HUMAN	P	114;114;114;113;114;114;114	ENSP00000274341:L114P;ENSP00000422592:L114P;ENSP00000421341:L114P;ENSP00000426610:L113P;ENSP00000422522:L114P;ENSP00000421726:L114P;ENSP00000423836:L114P	ENSP00000274341:L114P	L	-	2	0	HAPLN1	82984159	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.918000	0.92759	1.132000	0.42129	0.528000	0.53228	CTG		PASS	0.438	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		8	79	8	79	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89918485	89918485	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:89918485G>T	ENST00000405460.2	+	5	621	c.525G>T	c.(523-525)aaG>aaT	p.K175N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	175	Calx-beta 2. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K175N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGGGAAAAGGGAACCTATG	0.368																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(523-525)AAG>AAT		G protein-coupled receptor 98 precursor							64.0	63.0	64.0					5																	89918485		1867	4116	5983	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89918485G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.525G>T	5.37:g.89918485G>T	ENSP00000384582:p.Lys175Asn					GPR98_uc003kjt.2_Translation_Start_Site	p.K175N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	5	621	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	175			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.525G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975558	0.74360	.	.	ENSG00000164199	ENST00000508842;ENST00000405460;ENST00000296619;ENST00000399043	T;T	0.58797	0.31;1.72	5.85	1.23	0.21249	Na-Ca exchanger/integrin-beta4 (2);	0.045251	0.85682	D	0.000000	T	0.72285	0.3441	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71337	-0.4623	10	0.72032	D	0.01	.	10.12	0.42614	0.6999:0.0:0.3001:0.0	.	175	Q8WXG9	GPR98_HUMAN	N	147;175;175;175	ENSP00000425936:K147N;ENSP00000384582:K175N	ENSP00000296619:K175N	K	+	3	2	GPR98	89954241	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	0.949000	0.29109	-0.013000	0.14199	0.655000	0.94253	AAG		PASS	0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	0	4	0	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118440944	118440944	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:118440944G>T	ENST00000311085.8	+	4	435	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D119Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	119								p.D119Y(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATAACCTGGGATCCCACAGG	0.328																																						uc003ksd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(355-357)GAT>TAT		Dmx-like 1							68.0	71.0	70.0					5																	118440944		2202	4297	6499	SO:0001583	missense	1657							g.chr5:118440944G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.355G>T	5.37:g.118440944G>T	ENSP00000309690:p.Asp119Tyr					DMXL1_uc010jcl.1_Missense_Mutation_p.D119Y|DMXL1_uc003ksc.1_Missense_Mutation_p.D119Y	p.D119Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	4	536	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	119			WD 1.			Missense_Mutation	SNP	ENST00000311085.8	37	c.355G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133663	0.77662	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.67523	2.75;-0.27;2.75	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046661	0.85682	D	0.000000	T	0.79913	0.4528	M	0.72118	2.19	0.58432	D	0.999998	D;D	0.56521	0.976;0.96	P;P	0.59171	0.853;0.545	T	0.81215	-0.1034	10	0.72032	D	0.01	-21.0961	19.4252	0.94739	0.0:0.0:1.0:0.0	.	119;119	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	119	ENSP00000427692:D119Y;ENSP00000309690:D119Y;ENSP00000439479:D119Y	ENSP00000309690:D119Y	D	+	1	0	DMXL1	118468843	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.820000	0.62671	2.685000	0.91497	0.585000	0.79938	GAT		PASS	0.328	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		31	14	31	14	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356226	121356226	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:121356226G>C	ENST00000339397.4	+	6	868	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.E266Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TGATAGCACAGAAGAAAGGTT	0.408																																						uc003kst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)GAA>CAA		serum response factor binding protein 1							129.0	115.0	120.0					5																	121356226		1873	4125	5998	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356226G>C	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.796G>C	5.37:g.121356226G>C	ENSP00000341324:p.Glu266Gln						p.E266Q	NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	868	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	266						Missense_Mutation	SNP	ENST00000339397.4	37	c.796G>C	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458596	0.84317	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.71	4.85	0.62838	.	0.091193	0.85682	D	0.000000	T	0.77458	0.4133	M	0.72118	2.19	0.58432	D	0.999993	D	0.89917	1.0	D	0.72075	0.976	T	0.80500	-0.1355	9	0.87932	D	0	-21.3237	14.6631	0.68888	0.0698:0.0:0.9302:0.0	.	266	Q8NEF9	SRFB1_HUMAN	Q	266	.	ENSP00000341324:E266Q	E	+	1	0	SRFBP1	121384125	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.326000	0.96389	1.420000	0.47138	0.563000	0.77884	GAA		PASS	0.408	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		50	22	50	22	---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135610393	135610393	+	Missense_Mutation	SNP	C	C	A	rs551264578		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:135610393C>A	ENST00000513104.1	-	4	1378	c.1096G>T	c.(1096-1098)Gcc>Tcc	p.A366S	TRPC7_ENST00000355180.3_Missense_Mutation_p.A305S|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	366					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A366S(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGGCTATGGCGAGAAAAGGG	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		4934	0.0		0.0	False		,,,				2504	0.0					uc003lbn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1093-1095)GCC>TCC		transient receptor potential cation channel,							72.0	71.0	72.0					5																	135610393		1904	4134	6038	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135610393C>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1096G>T	5.37:g.135610393C>A	ENSP00000426070:p.Ala366Ser					TRPC7_uc010jef.1_Intron|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A296S|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	p.A365S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	1096	-			366			Helical; (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1093G>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.536321|2.536321	0.45176|0.45176	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000513104;ENST00000265193|ENST00000378459	T;T|.	0.36878|.	1.23;1.23|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.053017|.	0.85682|.	D|.	0.000000|.	T|T	0.60495|0.60495	0.2273|0.2273	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B|.	0.20164|.	0.034;0.042|.	B;B|.	0.27500|.	0.08;0.05|.	T|T	0.52946|0.52946	-0.8507|-0.8507	10|5	0.02654|.	T|.	1|.	-15.274|-15.274	19.3982|19.3982	0.94617|0.94617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	305;366|.	F5H5U9;Q9HCX4|.	.;TRPC7_HUMAN|.	S|L	305;366;366|304	ENSP00000347312:A305S;ENSP00000426070:A366S|.	ENSP00000265193:A366S|.	A|R	-|-	1|2	0|0	TRPC7|TRPC7	135638292|135638292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.807000|4.807000	0.62576|0.62576	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CGC		PASS	0.463	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		7	1	7	1	---	---	---	---
HNRNPA0	10949	broad.mit.edu	37	5	137089649	137089649	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:137089649C>A	ENST00000314940.4	-	1	390	c.107G>T	c.(106-108)tGc>tTc	p.C36F		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	36	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.C36F(1)		large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCACCACGCAGTCCGTCAG	0.617																																						uc003lbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)TGC>TTC		heterogeneous nuclear ribonucleoprotein A0							44.0	46.0	45.0					5																	137089649		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089649C>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.107G>T	5.37:g.137089649C>A	ENSP00000316042:p.Cys36Phe					MYOT_uc011cye.1_Intron|HNRNPA0_uc010jeo.2_Intron	p.C36F	NM_006805	NP_006796	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	391	-			36			RRM 1.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.107G>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429645	0.83776	.	.	ENSG00000177733	ENST00000314940	T	0.07444	3.19	5.11	4.24	0.50183	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.28134	0.0694	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01956	-1.1240	10	0.62326	D	0.03	.	13.4624	0.61235	0.0:0.9236:0.0:0.0764	.	36	Q13151	ROA0_HUMAN	F	36	ENSP00000316042:C36F	ENSP00000316042:C36F	C	-	2	0	HNRNPA0	137117548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.027000	0.70881	1.139000	0.42245	0.462000	0.41574	TGC		PASS	0.617	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		16	2	16	2	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229700	140229700	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:140229700G>T	ENST00000532602.1	+	1	2653	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A540A|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A540A(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGACGCGGGCGTGCCGC	0.672																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|skin(1)	5						c.(1618-1620)GCG>GCT		protocadherin alpha 9 isoform 1 precursor							60.0	68.0	65.0					5																	140229700		2195	4267	6462	SO:0001819	synonymous_variant	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229700G>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1620G>T	5.37:g.140229700G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A540A	p.A540A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2344	+			540			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1620G>T	CCDS54920.1																																																																																				PASS	0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		66	21	66	21	---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140249689	140249689	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:140249689C>A	ENST00000398640.2	+	1	1001	c.1001C>A	c.(1000-1002)aCa>aAa	p.T334K	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T334K(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTGTACAGTCTGGGTG	0.488																																						uc003lia.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1000-1002)ACA>AAA		protocadherin alpha 11 isoform 1 precursor							55.0	64.0	61.0					5																	140249689		2193	4293	6486	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140249689C>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1001C>A	5.37:g.140249689C>A	ENSP00000381636:p.Thr334Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T334K	p.T334K	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1859	+			334			Extracellular (Potential).|Cadherin 3.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1001C>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	4.124	0.021292	0.08006	.	.	ENSG00000249158	ENST00000398640	T	0.54675	0.56	5.73	1.29	0.21616	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22975	0.0555	N	0.11364	0.135	0.22401	N	0.999133	B;B	0.06786	0.001;0.001	B;B	0.23419	0.027;0.046	T	0.31447	-0.9943	9	0.02654	T	1	.	0.3419	0.00335	0.2249:0.3118:0.1822:0.2811	.	334;334	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	K	334	ENSP00000381636:T334K	ENSP00000381636:T334K	T	+	2	0	PCDHA11	140229873	0.000000	0.05858	0.919000	0.36401	0.873000	0.50193	-0.466000	0.06672	0.627000	0.30340	0.563000	0.77884	ACA		PASS	0.488	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		27	8	27	8	---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140348236	140348236	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:140348236G>A	ENST00000289269.5	+	1	2417	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D629N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGACTTCTGACCTGGACCT	0.502																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1885-1887)GAC>AAC		protocadherin alpha subfamily C, 2 isoform 1							65.0	64.0	65.0					5																	140348236		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348236G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1885G>A	5.37:g.140348236G>A	ENSP00000289269:p.Asp629Asn					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.D629N	p.D629N	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2125	+			629			Cadherin 6.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1885G>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667174	0.67814	.	.	ENSG00000243232	ENST00000289269	T	0.51325	0.71	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000453	T	0.68430	0.3000	M	0.67953	2.075	0.58432	D	0.999992	P;D	0.69078	0.939;0.997	P;D	0.65874	0.62;0.939	T	0.67518	-0.5650	10	0.62326	D	0.03	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	629;629	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	N	629	ENSP00000289269:D629N	ENSP00000289269:D629N	D	+	1	0	PCDHAC2	140328420	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.567000	0.73983	2.865000	0.98341	0.655000	0.94253	GAC		PASS	0.502	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		19	18	19	18	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140476696	140476696	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:140476696C>T	ENST00000194155.4	+	1	2470	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	774					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.P774P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATTATCCCCAACTTCGTTG	0.512																																						uc003lil.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(2320-2322)CCC>CCT		protocadherin beta 2 precursor							80.0	83.0	82.0					5																	140476696		2202	4297	6499	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476696C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2322C>T	5.37:g.140476696C>T						PCDHB2_uc003lim.1_Silent_p.P435P	p.P774P	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2460	+			774			Cytoplasmic (Potential).		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.2322C>T	CCDS4244.1																																																																																				PASS	0.512	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		61	18	61	18	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140501817	140501817	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:140501817G>T	ENST00000194152.1	+	1	237	c.237G>T	c.(235-237)caG>caT	p.Q79H	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q79H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATCGTCAGACTGGAGATT	0.557																																						uc003lip.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(235-237)CAG>CAT		protocadherin beta 4 precursor							60.0	64.0	63.0					5																	140501817		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501817G>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.237G>T	5.37:g.140501817G>T	ENSP00000194152:p.Gln79His						p.Q79H	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	237	+			79			Cadherin 1.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.237G>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	7.695	0.691874	0.15039	.	.	ENSG00000081818	ENST00000194152	T	0.28454	1.61	4.66	2.87	0.33458	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.37183	0.0994	L	0.46885	1.475	0.20563	N	0.999886	P	0.48834	0.916	P	0.57009	0.811	T	0.11372	-1.0590	9	0.44086	T	0.13	.	4.6938	0.12793	0.2469:0.0:0.5922:0.1609	.	79	Q9Y5E5	PCDB4_HUMAN	H	79	ENSP00000194152:Q79H	ENSP00000194152:Q79H	Q	+	3	2	PCDHB4	140482001	0.000000	0.05858	0.995000	0.50966	0.960000	0.62799	-1.500000	0.02283	1.318000	0.45170	0.655000	0.94253	CAG		PASS	0.557	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		35	13	35	13	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140580181	140580181	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:140580181C>G	ENST00000354757.3	+	1	834	c.834C>G	c.(832-834)tgC>tgG	p.C278W	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	278	Cadherin 3. {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.C278W(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)			GTGAAATATGCTATACCTTTT	0.383																																						uc003liy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(832-834)TGC>TGG		protocadherin beta 11 precursor							153.0	155.0	155.0					5																	140580181		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.chr5:140580181C>G	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.834C>G	5.37:g.140580181C>G	ENSP00000346802:p.Cys278Trp					PCDHB11_uc011daj.1_5'UTR	p.C278W	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	834	+			278			Extracellular (Potential).|Cadherin 3.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.834C>G	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	6.599	0.478981	0.12581	.	.	ENSG00000197479	ENST00000354757	T	0.01725	4.67	2.7	-5.39	0.02664	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01353	0.0044	N	0.03608	-0.345	0.43230	D	0.995129	P	0.44946	0.846	P	0.48334	0.574	T	0.51284	-0.8725	9	0.87932	D	0	.	11.2254	0.48880	0.1798:0.7232:0.097:0.0	.	278	Q9Y5F2	PCDBB_HUMAN	W	278	ENSP00000346802:C278W	ENSP00000346802:C278W	C	+	3	2	PCDHB11	140560365	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.739000	0.00101	-1.449000	0.01938	-0.499000	0.04595	TGC		PASS	0.383	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		36	99	36	99	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140753711	140753711	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:140753711G>T	ENST00000517434.1	+	1	61	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	21					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G21W(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCTCCTGGGGACGCTGTG	0.602																																						uc003ljy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(61-63)GGG>TGG		protocadherin gamma subfamily A, 6 isoform 1							14.0	18.0	16.0					5																	140753711		2012	4202	6214	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140753711G>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.61G>T	5.37:g.140753711G>T	ENSP00000429601:p.Gly21Trp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.G21W	p.G21W	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	61	+			21					A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.61G>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921832	0.33908	.	.	ENSG00000253731	ENST00000517434	T	0.44881	0.91	5.05	-1.28	0.09318	.	.	.	.	.	T	0.35451	0.0932	M	0.66297	2.02	0.09310	N	1	B;B	0.17852	0.024;0.006	B;B	0.26416	0.069;0.013	T	0.40776	-0.9545	9	0.40728	T	0.16	.	2.0092	0.03484	0.2023:0.2813:0.3602:0.1563	.	21;21	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	W	21	ENSP00000429601:G21W	ENSP00000429601:G21W	G	+	1	0	PCDHGA6	140733895	0.000000	0.05858	0.005000	0.12908	0.510000	0.34073	-0.650000	0.05378	-0.384000	0.07845	0.591000	0.81541	GGG		PASS	0.602	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		10	3	10	3	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773410	140773410	+	Nonsense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:140773410A>T	ENST00000398604.2	+	1	1030	c.1030A>T	c.(1030-1032)Aga>Tga	p.R344*	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	344	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.R344*(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGACAATAGACCAGAAGT	0.428																																						uc003lkd.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1030-1032)AGA>TGA		protocadherin gamma subfamily A, 8 isoform 1							132.0	133.0	133.0					5																	140773410		1860	4111	5971	SO:0001587	stop_gained	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140773410A>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1030A>T	5.37:g.140773410A>T	ENSP00000381605:p.Arg344*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Nonsense_Mutation_p.R344*	p.R344*	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1928	+			344			Cadherin 3.|Extracellular (Potential).		A7MCZ4|O15039	Nonsense_Mutation	SNP	ENST00000398604.2	37	c.1030A>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	32	5.159652	0.94686	.	.	ENSG00000253767	ENST00000398604	.	.	.	5.41	3.01	0.34805	.	265.100000	0.03114	U	0.162933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	2.3641	0.04315	0.3725:0.3391:0.2884:0.0	.	.	.	.	X	344	.	ENSP00000381605:R344X	R	+	1	2	PCDHGA8	140753594	0.000000	0.05858	0.993000	0.49108	0.872000	0.50106	-1.189000	0.03061	0.881000	0.35993	0.533000	0.62120	AGA		PASS	0.428	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		72	22	72	22	---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150275522	150275522	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:150275522G>T	ENST00000274599.5	-	6	1699	c.1279C>A	c.(1279-1281)Cat>Aat	p.H427N	ZNF300_ENST00000446148.2_Missense_Mutation_p.H443N|ZNF300_ENST00000418587.2_Missense_Mutation_p.H391N|ZNF300_ENST00000394226.2_Missense_Mutation_p.H427N|ZNF300_ENST00000427179.1_3'UTR	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	427					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.H427N(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)			ATTCTTTTATGTATAATGAGG	0.438																																						uc003lsy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1279-1281)CAT>AAT		zinc finger protein 300							55.0	53.0	54.0					5																	150275522		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275522G>T	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.1279C>A	5.37:g.150275522G>T	ENSP00000274599:p.His427Asn					IRGM_uc011dcl.1_Intron	p.H427N	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1546	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	427			C2H2-type 6.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.1279C>A	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	G	18.16	3.563155	0.65538	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	3.87	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94837	0.8332	H	0.96365	3.81	0.29990	N	0.816961	D	0.89917	1.0	D	0.97110	1.0	D	0.89875	0.4026	9	0.87932	D	0	.	9.0111	0.36142	0.1106:0.0:0.8894:0.0	.	427	Q96RE9	ZN300_HUMAN	N	443;427;391;427	ENSP00000397178:H443N;ENSP00000274599:H427N;ENSP00000392593:H391N;ENSP00000377773:H427N	ENSP00000274599:H427N	H	-	1	0	ZNF300	150255715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.575000	0.90766	0.984000	0.38629	0.591000	0.81541	CAT		PASS	0.438	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		31	45	31	45	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150948104	150948104	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:150948104G>T	ENST00000261800.5	-	1	401	c.389C>A	c.(388-390)gCt>gAt	p.A130D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A130D(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGGTCAAAGCTTCCAACTC	0.527																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(388-390)GCT>GAT		FAT tumor suppressor 2 precursor							118.0	114.0	115.0					5																	150948104		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150948104G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.389C>A	5.37:g.150948104G>T	ENSP00000261800:p.Ala130Asp					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.A130D	p.A130D	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	402	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	130			Extracellular (Potential).|Cadherin 1.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.389C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380656	0.82792	.	.	ENSG00000086570	ENST00000261800	T	0.61158	0.13	5.45	5.45	0.79879	Cadherin (3);Cadherin-like (1);	0.086810	0.49916	D	0.000128	T	0.68613	0.3020	M	0.73217	2.22	0.80722	D	1	P	0.47191	0.891	P	0.49637	0.617	T	0.71210	-0.4660	10	0.54805	T	0.06	.	19.3012	0.94144	0.0:0.0:1.0:0.0	.	130	Q9NYQ8	FAT2_HUMAN	D	130	ENSP00000261800:A130D	ENSP00000261800:A130D	A	-	2	0	FAT2	150928297	1.000000	0.71417	0.092000	0.20876	0.989000	0.77384	6.619000	0.74219	2.553000	0.86117	0.555000	0.69702	GCT		PASS	0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		98	21	98	21	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156589583	156589583	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:156589583C>A	ENST00000302938.4	-	2	1788	c.1693G>T	c.(1693-1695)Gtg>Ttg	p.V565L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	565						nucleus (GO:0005634)		p.V565L(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTTCTCCACCATCTTAGCC	0.493																																						uc003lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1693-1695)GTG>TTG		family with sequence similarity 71, member B							282.0	275.0	278.0					5																	156589583		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589583C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1693G>T	5.37:g.156589583C>A	ENSP00000305596:p.Val565Leu						p.V565L	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1793	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	565					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1693G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	9.522	1.108572	0.20714	.	.	ENSG00000170613	ENST00000302938	T	0.17854	2.25	3.87	2.99	0.34606	.	0.210963	0.23951	N	0.042956	T	0.11707	0.0285	L	0.28400	0.85	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18999	-1.0319	10	0.36615	T	0.2	-17.9472	8.958	0.35829	0.2208:0.7792:0.0:0.0	.	565	Q8TC56	FA71B_HUMAN	L	565	ENSP00000305596:V565L	ENSP00000305596:V565L	V	-	1	0	FAM71B	156522161	0.318000	0.24598	0.106000	0.21319	0.021000	0.10359	0.904000	0.28491	1.184000	0.42957	0.655000	0.94253	GTG		PASS	0.493	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		130	34	130	34	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168216564	168216564	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:168216564C>A	ENST00000519560.1	-	11	1499		c.e11+1		SLIT3_ENST00000332966.8_Splice_Site|SLIT3_ENST00000404867.3_Splice_Site|Y_RNA_ENST00000365475.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCCACTTACAGCGATGTGA	0.512																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Unknown(1)		lung(1)	ovary(3)|skin(1)	4						c.e11+1		slit homolog 3 precursor							59.0	52.0	54.0					5																	168216564		2203	4300	6503	SO:0001630	splice_region_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168216564C>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1079+1G>T	5.37:g.168216564C>A						SLIT3_uc010jjg.2_Splice_Site_p.L360_splice|SLIT3_uc010jji.2_Splice_Site_p.L360_splice|SLIT3_uc003mac.1_Splice_Site_p.L157_splice	p.L360_splice	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1499	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)						A6H8U9|J3KNP3|O95804|Q9UFH5	Splice_Site	SNP	ENST00000519560.1	37	c.1079_splice	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368494	0.82463	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4631	0.94927	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLIT3	168149142	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.632000	0.74281	2.598000	0.87819	0.644000	0.83932	.		PASS	0.512	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	Intron	5	4	5	4	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169463541	169463541	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:169463541G>C	ENST00000256935.8	+	36	3727	c.3647G>C	c.(3646-3648)aGg>aCg	p.R1216T	DOCK2_ENST00000520908.1_Missense_Mutation_p.R708T|DOCK2_ENST00000540750.1_Missense_Mutation_p.R277T|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1216	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1216T(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATAACAACAGGGAGGAGATG	0.433																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(3646-3648)AGG>ACG		dedicator of cytokinesis 2							130.0	128.0	129.0					5																	169463541		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169463541G>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3647G>C	5.37:g.169463541G>C	ENSP00000256935:p.Arg1216Thr					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R708T	p.R1216T	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	3727	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1216			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3647G>C	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919832	0.92249	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.44083	0.93;0.93;0.93	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.92367	3.3	0.45452	D	0.998421	D;D	0.59767	0.986;0.986	P;P	0.54312	0.748;0.748	T	0.76785	-0.2831	10	0.66056	D	0.02	.	19.5461	0.95297	0.0:0.0:1.0:0.0	.	708;1216	E7ERW7;Q92608	.;DOCK2_HUMAN	T	1216;708;277	ENSP00000256935:R1216T;ENSP00000429283:R708T;ENSP00000438827:R277T	ENSP00000256935:R1216T	R	+	2	0	DOCK2	169396119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.824000	0.92023	2.715000	0.92844	0.655000	0.94253	AGG		PASS	0.433	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		29	10	29	10	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171471959	171471959	+	Missense_Mutation	SNP	G	G	A	rs201304022		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:171471959G>A	ENST00000176763.5	-	19	3177	c.2834C>T	c.(2833-2835)gCg>gTg	p.A945V		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	945					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.A945V(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCACTCCGCCTCCTCGCT	0.592																																						uc003mbo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2833-2835)GCG>GTG		serine/threonine kinase 10							93.0	81.0	85.0					5																	171471959		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171471959G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2834C>T	5.37:g.171471959G>A	ENSP00000176763:p.Ala945Val						p.A945V	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		19	3134	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	945			Potential.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2834C>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573613	0.28092	.	.	ENSG00000072786	ENST00000176763;ENST00000520476;ENST00000545839	T	0.67171	-0.25	4.54	3.67	0.42095	.	0.435074	0.21551	N	0.072726	T	0.46268	0.1384	N	0.16307	0.4	0.27813	N	0.942072	B	0.15719	0.014	B	0.12156	0.007	T	0.32719	-0.9896	10	0.34782	T	0.22	.	7.0954	0.25307	0.206:0.0:0.794:0.0	.	945	O94804	STK10_HUMAN	V	945;236;945	ENSP00000176763:A945V	ENSP00000176763:A945V	A	-	2	0	STK10	171404564	0.975000	0.34042	0.186000	0.23195	0.300000	0.27592	5.724000	0.68500	0.905000	0.36596	0.655000	0.94253	GCG		PASS	0.592	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		19	6	19	6	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4053064	4053064	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:4053064G>A	ENST00000337659.6	+	11	2523	c.2423G>A	c.(2422-2424)aGa>aAa	p.R808K	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R794K	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R297K(1)|p.R808K(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CTCCTTAAAAGATGCAATATC	0.378																																						uc003mvv.2																			2	Substitution - Missense(2)		lung(2)	breast(5)	5						c.(2422-2424)AGA>AAA		serine/threonine-protein kinase PRP4K							94.0	89.0	90.0					6																	4053064		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4053064G>A	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2423G>A	6.37:g.4053064G>A	ENSP00000337194:p.Arg808Lys					PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	p.R808K	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			11	2514	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	808			Protein kinase.		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.2423G>A	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704699	0.30232	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.19806	2.12;2.12	5.44	5.44	0.79542	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	0.12987	0.0315	N	0.05534	-0.03	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.02173	-1.1201	10	0.02654	T	1	.	19.2657	0.93984	0.0:0.0:1.0:0.0	.	808	Q13523	PRP4B_HUMAN	K	808;794	ENSP00000337194:R808K;ENSP00000439331:R794K	ENSP00000337194:R808K	R	+	2	0	PRPF4B	3998063	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.471000	0.97696	2.524000	0.85096	0.557000	0.71058	AGA		PASS	0.378	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			15	8	15	8	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6152085	6152085	+	Missense_Mutation	SNP	T	T	A	rs375129902		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:6152085T>A	ENST00000264870.3	-	14	2271	c.2006A>T	c.(2005-2007)gAt>gTt	p.D669V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	669					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D669V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCCAGGACCATCCAGGTGTAC	0.507																																						uc003mwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(2005-2007)GAT>GTT		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						129.0	115.0	120.0					6																	6152085		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6152085T>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.2006A>T	6.37:g.6152085T>A	ENSP00000264870:p.Asp669Val					F13A1_uc011dib.1_Intron	p.D669V	NM_000129	NP_000120	P00488	F13A_HUMAN			14	2129	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	669					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.2006A>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.264762	0.59431	.	.	ENSG00000124491	ENST00000264870	T	0.80824	-1.42	5.37	5.37	0.77165	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.403794	0.29369	N	0.012355	D	0.83271	0.5218	M	0.66939	2.045	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.85778	0.1359	10	0.87932	D	0	.	7.8609	0.29509	0.0:0.0891:0.0:0.9109	.	669	P00488	F13A_HUMAN	V	669	ENSP00000264870:D669V	ENSP00000264870:D669V	D	-	2	0	F13A1	6097084	0.998000	0.40836	0.871000	0.34182	0.691000	0.40173	2.999000	0.49473	2.251000	0.74343	0.528000	0.53228	GAT		PASS	0.507	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		41	22	41	22	---	---	---	---
SLC17A2	10246	broad.mit.edu	37	6	25914827	25914827	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:25914827G>T	ENST00000265425.3	-	10	1303	c.1283C>A	c.(1282-1284)aCt>aAt	p.T428N	SLC17A2_ENST00000360488.3_Missense_Mutation_p.L379M|SLC17A2_ENST00000377850.3_Missense_Mutation_p.T428N			O00624	NPT3_HUMAN	solute carrier family 17, member 2	428					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.L379M(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GAGGAATCCAGTGGCAGTGGA	0.433																																						uc011dkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1282-1284)ACT>AAT		SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;							127.0	105.0	112.0					6																	25914827		2203	4300	6503	SO:0001583	missense	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25914827G>T	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.1283C>A	6.37:g.25914827G>T	ENSP00000265425:p.Thr428Asn					SLC17A2_uc011dkc.1_Missense_Mutation_p.L379M|SLC17A2_uc003nfl.2_Missense_Mutation_p.L379M	p.T428N			O00624	NPT3_HUMAN			10	1366	-			428			Helical; (Potential).		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37	c.1283C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.479476|2.479476	0.44044|0.44044	.|.	.|.	ENSG00000112337|ENSG00000112337	ENST00000360488|ENST00000377850;ENST00000265425	T|T;T	0.70045|0.59638	-0.45|0.56;0.25	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|T	0.35364|0.35364	0.0929|0.0929	.|.	.|.	.|.	0.37116|0.37116	D|D	0.900575|0.900575	P|B	0.42620|0.24533	0.785|0.105	B|B	0.44224|0.19391	0.444|0.025	T|T	0.41698|0.41698	-0.9494|-0.9494	8|9	0.54805|0.66056	T|D	0.06|0.02	.|.	13.0803|13.0803	0.59109|0.59109	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	379|428	O00624-2|A6NK81	.|.	M|N	379|428	ENSP00000353677:L379M|ENSP00000367081:T428N;ENSP00000265425:T428N	ENSP00000353677:L379M|ENSP00000265425:T428N	L|T	-|-	1|2	2|0	SLC17A2|SLC17A2	26022806|26022806	0.605000|0.605000	0.26941|0.26941	0.982000|0.982000	0.44146|0.44146	0.984000|0.984000	0.73092|0.73092	3.281000|3.281000	0.51685|0.51685	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	CTG|ACT		PASS	0.433	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			17	7	17	7	---	---	---	---
HIST1H2BK	85236	broad.mit.edu	37	6	27114553	27114553	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:27114553G>C	ENST00000356950.1	-	1	24	c.25C>G	c.(25-27)Ccc>Gcc	p.P9A	MIR3143_ENST00000584253.1_RNA|HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.P9A			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	9					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P9A(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGGGCGCGGGAGCGGACTTC	0.582																																						uc003nix.1																			2	Substitution - Missense(2)		lung(2)		0						c.(25-27)CCC>GCC		histone cluster 1, H2bk							66.0	65.0	65.0					6																	27114553		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114553G>C	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.25C>G	6.37:g.27114553G>C	ENSP00000349430:p.Pro9Ala					HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.P9A	NM_080593	NP_542160	O60814	H2B1K_HUMAN			1	67	-			9					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.25C>G	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377635	0.61735	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.22134	1.97;1.97	4.05	4.05	0.47172	Histone-fold (2);	.	.	.	.	T	0.13286	0.0322	M	0.66939	2.045	0.37446	D	0.914605	P	0.41498	0.752	B	0.34452	0.183	T	0.10894	-1.0610	9	0.66056	D	0.02	.	14.5252	0.67884	0.0:0.0:1.0:0.0	.	9	O60814	H2B1K_HUMAN	A	9	ENSP00000380100:P9A;ENSP00000349430:P9A	ENSP00000349430:P9A	P	-	1	0	HIST1H2BK	27222532	1.000000	0.71417	0.016000	0.15963	0.005000	0.04900	6.756000	0.74919	2.196000	0.70406	0.650000	0.86243	CCC		PASS	0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		9	49	9	49	---	---	---	---
OR2J2	26707	broad.mit.edu	37	6	29141583	29141583	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:29141583C>A	ENST00000377167.2	+	1	273	c.171C>A	c.(169-171)caC>caA	p.H57Q		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H57Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CCCATCTCCACACACCAATGT	0.473																																						uc011dlm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)CAC>CAA		olfactory receptor, family 2, subfamily J,							167.0	159.0	161.0					6																	29141583		2044	4232	6276	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141583C>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.171C>A	6.37:g.29141583C>A	ENSP00000366372:p.His57Gln						p.H57Q	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	273	+			57			Cytoplasmic (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.171C>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	5.745	0.321941	0.10900	.	.	ENSG00000204700	ENST00000377167	T	0.15952	2.38	2.3	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15998	0.0385	L	0.56199	1.76	0.31092	N	0.710729	D	0.56746	0.977	P	0.57960	0.83	T	0.02567	-1.1140	9	0.62326	D	0.03	.	8.1772	0.31289	0.0:0.7494:0.2505:0.0	.	57	O76002	OR2J2_HUMAN	Q	57	ENSP00000366372:H57Q	ENSP00000366372:H57Q	H	+	3	2	OR2J2	29249562	0.000000	0.05858	0.998000	0.56505	0.302000	0.27658	-1.030000	0.03581	1.265000	0.44215	0.205000	0.17691	CAC		PASS	0.473	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			60	29	60	29	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29911978	29911978	+	Nonsense_Mutation	SNP	C	C	A	rs61760922		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:29911978C>A	ENST00000396634.1	+	6	1040	c.699C>A	c.(697-699)taC>taA	p.Y233*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.Y233*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.Y233*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.Y233*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	233	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Y233*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGGCTTCTACCCTGCGGAGA	0.622									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(697-699)TAC>TAA		major histocompatibility complex, class I, A							55.0	71.0	65.0					6																	29911978		1506	2698	4204	SO:0001587	stop_gained	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911978C>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.699C>A	6.37:g.29911978C>A	ENSP00000379873:p.Tyr233*	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Nonsense_Mutation_p.Y112*|HLA-A_uc003nok.2_Nonsense_Mutation_p.Y112*|HLA-A_uc003non.2_Nonsense_Mutation_p.Y233*|HLA-A_uc003noo.2_Nonsense_Mutation_p.Y233*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.Y233*|HLA-A_uc003nom.2_Nonsense_Mutation_p.Y112*|HLA-A_uc010klp.2_Nonsense_Mutation_p.Y205*|HLA-A_uc011dmc.1_Nonsense_Mutation_p.Y112*|HLA-A_uc011dmd.1_Nonsense_Mutation_p.Y112*	p.Y233*	NM_002116	NP_002107	P30443	1A01_HUMAN			4	699	+			233			Extracellular (Potential).|Alpha-3.|Ig-like C1-type.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.699C>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	39	7.501635	0.98322	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	.	.	.	3.69	3.69	0.42338	.	0.000000	0.37857	U	0.001912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1517	0.48462	0.0:1.0:0.0:0.0	rs61760922	.	.	.	X	233;233;21;233;233	.	ENSP00000365998:Y233X	Y	+	3	2	HLA-A	30019957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.145000	0.42207	2.070000	0.61991	0.485000	0.47835	TAC		PASS	0.622	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		17	34	17	34	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29912172	29912172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:29912172G>A	ENST00000396634.1	+	6	1234	c.893G>A	c.(892-894)tGg>tAg	p.W298*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W298*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W298*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W298*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	298	Alpha-3.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.W298*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACCCTGAGATGGGGTAAGGAG	0.592									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(892-894)TGG>TAG		major histocompatibility complex, class I, A							61.0	57.0	59.0					6																	29912172		1511	2709	4220	SO:0001587	stop_gained	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912172G>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.893G>A	6.37:g.29912172G>A	ENSP00000379873:p.Trp298*	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Nonsense_Mutation_p.W177*|HLA-A_uc003nok.2_Nonsense_Mutation_p.W177*|HLA-A_uc003non.2_Nonsense_Mutation_p.W298*|HLA-A_uc003noo.2_Nonsense_Mutation_p.W298*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.W298*|HLA-A_uc003nom.2_Nonsense_Mutation_p.W177*|HLA-A_uc010klp.2_Nonsense_Mutation_p.W270*|HLA-A_uc011dmc.1_Nonsense_Mutation_p.W177*|HLA-A_uc011dmd.1_Nonsense_Mutation_p.W177*	p.W298*	NM_002116	NP_002107	P30443	1A01_HUMAN			4	893	+			298			Extracellular (Potential).|Alpha-3.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.893G>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	38	6.682204	0.97759	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	.	.	.	3.69	3.69	0.42338	.	0.000000	0.39475	U	0.001349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1517	0.48462	0.0:0.0:1.0:0.0	.	.	.	.	X	298;298;86;298;298	.	ENSP00000365998:W298X	W	+	2	0	HLA-A	30020151	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.966000	0.49208	2.070000	0.61991	0.485000	0.47835	TGG		PASS	0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		10	13	10	13	---	---	---	---
C6orf15	29113	broad.mit.edu	37	6	31079509	31079509	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:31079509C>G	ENST00000259870.3	-	2	630	c.627G>C	c.(625-627)tgG>tgC	p.W209C		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	209					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.W209C(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCAGGGTACCCCAGGGGTGAT	0.602																																						uc003nsk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)TGG>TGC		STG protein precursor							32.0	33.0	33.0					6																	31079509		1737	3295	5032	SO:0001583	missense	29113							g.chr6:31079509C>G	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.627G>C	6.37:g.31079509C>G	ENSP00000259870:p.Trp209Cys						p.W209C	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	627	-			209					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.627G>C	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838890	0.51057	.	.	ENSG00000204542	ENST00000259870	T	0.09073	3.02	4.54	3.64	0.41730	.	0.475600	0.18113	N	0.151316	T	0.05090	0.0136	M	0.67953	2.075	0.44579	D	0.997542	B	0.29162	0.235	B	0.26864	0.074	T	0.06826	-1.0805	10	0.56958	D	0.05	-4.4202	11.3842	0.49776	0.1823:0.8177:0.0:0.0	.	209	Q6UXA7	CF015_HUMAN	C	209	ENSP00000259870:W209C	ENSP00000259870:W209C	W	-	3	0	C6orf15	31187488	0.999000	0.42202	0.947000	0.38551	0.879000	0.50718	1.693000	0.37742	1.059000	0.40554	0.643000	0.83706	TGG		PASS	0.602	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		23	6	23	6	---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33632657	33632657	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:33632657G>T	ENST00000374316.5	+	13	2219	c.1159G>T	c.(1159-1161)Gtc>Ttc	p.V387F	ITPR3_ENST00000605930.1_Missense_Mutation_p.V387F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	387	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.V387F(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GAACTCGTACGTCCGGCTGCG	0.637																																						uc011drk.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(1159-1161)GTC>TTC		inositol 1,4,5-triphosphate receptor, type 3							56.0	51.0	52.0					6																	33632657		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33632657G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1159G>T	6.37:g.33632657G>T	ENSP00000363435:p.Val387Phe						p.V387F	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			12	1378	+			387			Cytoplasmic (Potential).|MIR 5.		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1159G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516826	0.64634	.	.	ENSG00000096433	ENST00000374316	D	0.87809	-2.3	4.98	4.98	0.66077	MIR motif (2);MIR (2);	0.132552	0.50627	D	0.000111	D	0.93148	0.7818	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93918	0.7203	10	0.66056	D	0.02	-29.9652	17.8402	0.88713	0.0:0.0:1.0:0.0	.	387	Q14573	ITPR3_HUMAN	F	387	ENSP00000363435:V387F	ENSP00000363435:V387F	V	+	1	0	ITPR3	33740635	1.000000	0.71417	0.940000	0.37924	0.123000	0.20343	5.626000	0.67777	2.303000	0.77524	0.305000	0.20034	GTC		PASS	0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		12	11	12	11	---	---	---	---
STK38	11329	broad.mit.edu	37	6	36475298	36475298	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:36475298G>A	ENST00000229812.7	-	8	1036	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	Z85986.1_ENST00000583113.1_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.H251Y(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGAGGCTGTGGTTCAGATTC	0.423																																					Colon(180;997 3561 16158)	uc003omg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(751-753)CAC>TAC		serine/threonine kinase 38							288.0	303.0	298.0					6																	36475298		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36475298G>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.751C>T	6.37:g.36475298G>A	ENSP00000229812:p.His251Tyr					STK38_uc003omh.2_Missense_Mutation_p.H251Y|STK38_uc003omi.2_Missense_Mutation_p.H251Y	p.H251Y	NM_007271	NP_009202	Q15208	STK38_HUMAN			7	1339	-			251			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.751C>T	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166100	0.94768	.	.	ENSG00000112079	ENST00000229812	T	0.60040	0.22	5.78	5.78	0.91487	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	0.51295	0.1666	L	0.34521	1.04	0.80722	D	1	P	0.48589	0.912	P	0.49887	0.625	T	0.54853	-0.8231	10	0.62326	D	0.03	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	251	Q15208	STK38_HUMAN	Y	251	ENSP00000229812:H251Y	ENSP00000229812:H251Y	H	-	1	0	STK38	36583276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.769000	0.98969	2.733000	0.93635	0.591000	0.81541	CAC		PASS	0.423	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		125	52	125	52	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54804515	54804515	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:54804515C>T	ENST00000306858.7	+	5	862	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	249								p.S249L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATATGTGGTCATTTGAGAAA	0.318																																						uc003pck.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(745-747)TCA>TTA		hypothetical protein LOC222584							67.0	66.0	66.0					6																	54804515		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54804515C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.746C>T	6.37:g.54804515C>T	ENSP00000304078:p.Ser249Leu						p.S249L	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	862	+	Lung NSC(77;0.0178)|Renal(3;0.122)		249					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.746C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997079	0.54147	.	.	ENSG00000168143	ENST00000306858	T	0.14022	2.54	5.42	4.56	0.56223	.	0.140057	0.49916	D	0.000124	T	0.15998	0.0385	L	0.42529	1.33	0.52099	D	0.999946	D	0.60160	0.987	P	0.60789	0.879	T	0.01242	-1.1408	10	0.44086	T	0.13	-17.1793	14.6993	0.69145	0.0:0.9298:0.0:0.0702	.	249	Q5T0W9	FA83B_HUMAN	L	249	ENSP00000304078:S249L	ENSP00000304078:S249L	S	+	2	0	FAM83B	54912474	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.735000	0.68587	1.430000	0.47334	-0.216000	0.12614	TCA		PASS	0.318	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		21	15	21	15	---	---	---	---
BMP5	653	broad.mit.edu	37	6	55739518	55739518	+	Missense_Mutation	SNP	C	C	G	rs140823469		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:55739518C>G	ENST00000370830.3	-	1	844	c.146G>C	c.(145-147)cGg>cCg	p.R49P	BMP5_ENST00000446683.2_Missense_Mutation_p.R49P	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	49					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.R49P(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)			TTGTATTTCCCGTCTTTCGTG	0.453																																						uc003pcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(145-147)CGG>CCG		bone morphogenetic protein 5 preproprotein							199.0	183.0	188.0					6																	55739518		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739518C>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.146G>C	6.37:g.55739518C>G	ENSP00000359866:p.Arg49Pro					BMP5_uc011dxf.1_Missense_Mutation_p.R49P	p.R49P	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	858	-	Lung NSC(77;0.0462)		49					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.146G>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418644	0.62622	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.66995	-0.24;-0.24	5.72	5.72	0.89469	Transforming growth factor-beta, N-terminal (1);	0.164830	0.49305	D	0.000143	T	0.77096	0.4080	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.991	T	0.79734	-0.1679	10	0.87932	D	0	.	13.1164	0.59301	0.0:0.9269:0.0:0.0731	.	49;49	B4E0Y4;P22003	.;BMP5_HUMAN	P	49	ENSP00000359866:R49P;ENSP00000391818:R49P	ENSP00000359866:R49P	R	-	2	0	BMP5	55847477	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.982000	0.63825	2.690000	0.91761	0.655000	0.94253	CGG		PASS	0.453	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			50	18	50	18	---	---	---	---
BEND6	221336	broad.mit.edu	37	6	56880145	56880145	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:56880145G>C	ENST00000370746.3	+	4	782	c.513G>C	c.(511-513)gaG>gaC	p.E171D	BEND6_ENST00000545789.1_Missense_Mutation_p.E73D|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	171	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.E171D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGACTGATGAGAAACAGGTCA	0.363																																						uc010kab.2																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)GAG>GAC		BEN domain containing 6							98.0	90.0	93.0					6																	56880145		1840	4088	5928	SO:0001583	missense	221336							g.chr6:56880145G>C	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.513G>C	6.37:g.56880145G>C	ENSP00000359782:p.Glu171Asp					BEND6_uc003pdi.3_Missense_Mutation_p.E73D	p.E171D	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			4	1099	+			171			BEN.		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.513G>C	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334071	0.41297	.	.	ENSG00000151917	ENST00000322055;ENST00000370746;ENST00000545789	.	.	.	5.09	2.22	0.28083	BEN domain (1);	0.206543	0.33813	N	0.004523	T	0.05593	0.0147	N	0.08118	0	0.26536	N	0.974168	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27434	-1.0074	9	0.41790	T	0.15	-16.2501	4.1403	0.10189	0.3019:0.1882:0.5099:0.0	.	171;73	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	D	171;171;73	.	ENSP00000322773:E171D	E	+	3	2	BEND6	56988104	1.000000	0.71417	0.982000	0.44146	0.468000	0.32798	2.128000	0.42045	0.729000	0.32403	0.591000	0.81541	GAG		PASS	0.363	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		34	16	34	16	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69349182	69349182	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:69349182G>T	ENST00000370598.1	+	3	1436	c.615G>T	c.(613-615)tgG>tgT	p.W205C		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	205					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W205C(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGGAGAGTGGGGGATCGACG	0.493																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(613-615)TGG>TGT		brain-specific angiogenesis inhibitor 3							64.0	63.0	63.0					6																	69349182		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349182G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.615G>T	6.37:g.69349182G>T	ENSP00000359630:p.Trp205Cys					BAI3_uc010kak.2_Missense_Mutation_p.W205C	p.W205C	NM_001704	NP_001695	O60242	BAI3_HUMAN			3	1063	+		all_lung(197;0.212)	205			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.615G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232324	0.58777	.	.	ENSG00000135298	ENST00000370598	T	0.20200	2.09	5.12	5.12	0.69794	.	0.090664	0.48286	D	0.000189	T	0.09862	0.0242	N	0.14661	0.345	0.80722	D	1	D	0.54047	0.964	B	0.43783	0.431	T	0.06320	-1.0833	10	0.46703	T	0.11	.	18.9257	0.92544	0.0:0.0:1.0:0.0	.	205	O60242	BAI3_HUMAN	C	205	ENSP00000359630:W205C	ENSP00000359630:W205C	W	+	3	0	BAI3	69405903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.153000	0.94687	2.552000	0.86080	0.655000	0.94253	TGG		PASS	0.493	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			23	18	23	18	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70926698	70926698	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:70926698C>G	ENST00000357250.6	-	38	2826	c.2668G>C	c.(2668-2670)Gga>Cga	p.G890R	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G647R|COL9A1_ENST00000320755.7_Missense_Mutation_p.G647R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	890	Collagen-like 10.|Triple-helical region (COL1).				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.G890R(1)|p.G647R(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						CCCGGGGGTCCAGGCACTCCA	0.622																																						uc003pfg.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2668-2670)GGA>CGA		alpha 1 type IX collagen isoform 1 precursor							35.0	42.0	40.0					6																	70926698		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70926698C>G		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.2668G>C	6.37:g.70926698C>G	ENSP00000349790:p.Gly890Arg					COL9A1_uc003pfe.3_Missense_Mutation_p.G439R|COL9A1_uc003pff.3_Missense_Mutation_p.G647R	p.G890R	NM_001851	NP_001842	P20849	CO9A1_HUMAN			38	2827	-			890			Triple-helical region (COL1).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.2668G>C	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698211	0.68386	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.99880	0.9943	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96491	0.9364	10	0.87932	D	0	.	20.1935	0.98237	0.0:1.0:0.0:0.0	.	890;647;439	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	R	890;647;647	ENSP00000349790:G890R;ENSP00000315252:G647R;ENSP00000359530:G647R	ENSP00000315252:G647R	G	-	1	0	COL9A1	70983419	1.000000	0.71417	0.672000	0.29872	0.837000	0.47467	6.521000	0.73778	2.779000	0.95612	0.591000	0.81541	GGA		PASS	0.622	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			22	6	22	6	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96054245	96054245	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:96054245A>G	ENST00000358812.4	+	5	1487	c.1353A>G	c.(1351-1353)gcA>gcG	p.A451A		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	451	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.A451A(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AGGAAAGAGCAACTTATGCAT	0.353																																						uc003poo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1351-1353)GCA>GCG		mannosidase, endo-alpha							51.0	51.0	51.0					6																	96054245		2203	4299	6502	SO:0001819	synonymous_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054245A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1353A>G	6.37:g.96054245A>G							p.A451A	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1493	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	451			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	ENST00000358812.4	37	c.1353A>G	CCDS5032.1																																																																																				PASS	0.353	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		4	34	4	34	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102503425	102503425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:102503425C>A	ENST00000421544.1	+	15	3022	c.2532C>A	c.(2530-2532)taC>taA	p.Y844*	GRIK2_ENST00000369138.1_Nonsense_Mutation_p.Y844*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.Y844*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.Y795*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.Y844*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.Y768*	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	844					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.Y844*(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AATTTTTATACAAATCCAAAA	0.368																																						uc003pqp.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2530-2532)TAC>TAA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						80.0	92.0	88.0					6																	102503425		2203	4300	6503	SO:0001587	stop_gained	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503425C>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2532C>A	6.37:g.102503425C>A	ENSP00000397026:p.Tyr844*					GRIK2_uc003pqo.3_Nonsense_Mutation_p.Y844*|GRIK2_uc010kcw.2_Nonsense_Mutation_p.Y844*	p.Y844*	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	2781	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	844			Cytoplasmic (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Nonsense_Mutation	SNP	ENST00000421544.1	37	c.2532C>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	43	10.373001	0.99393	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	.	.	.	5.68	4.82	0.62117	.	0.117372	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	12.8204	0.57690	0.0:0.8642:0.0:0.1358	.	.	.	.	X	844;844;844;768;844;795;619	.	ENSP00000313276:Y844X	Y	+	3	2	GRIK2	102610118	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.592000	0.46171	1.422000	0.47177	-0.224000	0.12420	TAC		PASS	0.368	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			55	24	55	24	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109796671	109796671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:109796671C>A	ENST00000230122.3	-	5	1386	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	407					hematopoietic progenitor cell differentiation (GO:0002244)|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.E407*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TCTTTGCATTCCGGTAATGAG	0.448																																						uc003ptl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1219-1221)GAA>TAA		zinc finger and BTB domain containing 24 isoform							189.0	156.0	167.0					6																	109796671		2203	4300	6503	SO:0001587	stop_gained	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109796671C>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1219G>T	6.37:g.109796671C>A	ENSP00000230122:p.Glu407*					ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Nonsense_Mutation_p.E351*|ZBTB24_uc010kdt.1_RNA	p.E407*	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	5	1387	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	407			C2H2-type 5.		Q17RC6|Q5TED5|Q8N455	Nonsense_Mutation	SNP	ENST00000230122.3	37	c.1219G>T	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	39	7.899558	0.98551	.	.	ENSG00000112365	ENST00000230122	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-29.6333	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	407	.	ENSP00000230122:E407X	E	-	1	0	ZBTB24	109903364	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.336000	0.79245	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.448	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		4	57	4	57	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109954162	109954162	+	Silent	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:109954162T>A	ENST00000424296.2	-	12	1294	c.1218A>T	c.(1216-1218)acA>acT	p.T406T	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Silent_p.T406T|AK9_ENST00000368948.2_Silent_p.T406T	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	406					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.T406T(2)									TATTGCAAAGTGTTGTTTTCC	0.368																																						uc003ptn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1216-1218)ACA>ACT		adenylate kinase domain containing 1 isoform 1							139.0	130.0	133.0					6																	109954162		2203	4300	6503	SO:0001819	synonymous_variant	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109954162T>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1218A>T	6.37:g.109954162T>A						AKD1_uc003ptr.3_Silent_p.T406T	p.T406T	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			12	1295	-			406					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.1218A>T	CCDS55048.1																																																																																				PASS	0.368	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		27	8	27	8	---	---	---	---
WASF1	8936	broad.mit.edu	37	6	110424670	110424670	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:110424670C>T	ENST00000392589.1	-	9	1640	c.804G>A	c.(802-804)gaG>gaA	p.E268E	WASF1_ENST00000359451.2_Silent_p.E268E|WASF1_ENST00000392588.1_Silent_p.E268E|WASF1_ENST00000392586.1_Silent_p.E268E|WASF1_ENST00000392587.2_Silent_p.E268E	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	268					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)	p.E268E(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ATACCCTTTCCTCAGCTCTAG	0.458																																						uc003ptv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(802-804)GAG>GAA		Wiskott-Aldrich syndrome protein family member							216.0	182.0	193.0					6																	110424670		2203	4300	6503	SO:0001819	synonymous_variant	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110424670C>T	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.804G>A	6.37:g.110424670C>T						WASF1_uc003ptw.1_Silent_p.E268E|WASF1_uc003ptx.1_Silent_p.E268E|WASF1_uc003pty.1_Silent_p.E268E	p.E268E	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	9	1641	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	268					E1P5F2|Q5SZK7	Silent	SNP	ENST00000392589.1	37	c.804G>A	CCDS5080.1																																																																																				PASS	0.458	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		5	80	5	80	---	---	---	---
COL10A1	1300	broad.mit.edu	37	6	116441971	116441971	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:116441971A>G	ENST00000327673.4	-	2	1715	c.1308T>C	c.(1306-1308)aaT>aaC	p.N436N	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_5'Flank|COL10A1_ENST00000243222.4_Silent_p.N436N			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	436	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)	p.N436N(1)		central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CAGCCTCTCCATTGTGTCCGG	0.602																																						uc003pwm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1306-1308)AAT>AAC		type X collagen alpha 1 precursor							40.0	40.0	40.0					6																	116441971		2203	4300	6503	SO:0001819	synonymous_variant	1300				skeletal system development	collagen	metal ion binding	g.chr6:116441971A>G		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.1308T>C	6.37:g.116441971A>G						NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	p.N436N	NM_000493	NP_000484	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	3	1404	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	436			Triple-helical region.		A1L4P2	Silent	SNP	ENST00000327673.4	37	c.1308T>C	CCDS5105.1																																																																																				PASS	0.602	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			5	55	5	55	---	---	---	---
RSPH4A	345895	broad.mit.edu	37	6	116938131	116938131	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:116938131T>C	ENST00000229554.5	+	1	482	c.345T>C	c.(343-345)agT>agC	p.S115S	RSPH4A_ENST00000368580.4_Silent_p.S115S|RSPH4A_ENST00000368581.4_Silent_p.S115S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	115					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.S115S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGACCACGAGTGTGATTCCTG	0.547									Kartagener syndrome																													uc003pxe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)AGT>AGC		radial spoke head 4 homolog A isoform 1							70.0	72.0	71.0					6																	116938131		2203	4300	6503	SO:0001819	synonymous_variant	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938131T>C		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.345T>C	6.37:g.116938131T>C						RSPH4A_uc010kee.2_Silent_p.S115S	p.S115S	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			1	490	+			115					B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	c.345T>C	CCDS34521.1																																																																																				PASS	0.547	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		6	46	6	46	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117665372	117665372	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:117665372C>T	ENST00000368508.3	-	27	4573	c.4375G>A	c.(4375-4377)Gcc>Acc	p.A1459T	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A1453T	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1459	Fibronectin type-III 6. {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.A1459T(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)		GTGTTAGTGGCATTAAGTATA	0.378			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.(4375-4377)GCC>ACC		proto-oncogene c-ros-1 protein precursor							252.0	242.0	245.0					6																	117665372		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.chr6:117665372C>T	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.4375G>A	6.37:g.117665372C>T	ENSP00000357494:p.Ala1459Thr					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.A1459T	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)	27	4574	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1459			Extracellular (Potential).|Fibronectin type-III 6.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4375G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	0.396	-0.921016	0.02396	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71579	-0.57;-0.58	5.16	-2.25	0.06888	.	0.701232	0.13452	N	0.386851	T	0.18383	0.0441	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38520	-0.9657	10	0.10902	T	0.67	.	9.7442	0.40437	0.0:0.479:0.0:0.521	.	1459	P08922	ROS1_HUMAN	T	1459;1453	ENSP00000357494:A1459T;ENSP00000357493:A1453T	ENSP00000357493:A1453T	A	-	1	0	ROS1	117772065	0.001000	0.12720	0.017000	0.16124	0.650000	0.38633	0.406000	0.21032	-0.427000	0.07350	-0.254000	0.11334	GCC		PASS	0.378	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			46	21	46	21	---	---	---	---
MAN1A1	4121	broad.mit.edu	37	6	119510840	119510840	+	Missense_Mutation	SNP	T	T	C	rs374986955		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:119510840T>C	ENST00000368468.3	-	10	1976	c.1535A>G	c.(1534-1536)tAt>tGt	p.Y512C		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	512					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.Y512C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGTTCGATTATATGATTCATG	0.463																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1534-1536)TAT>TGT		mannosidase, alpha, class 1A, member 1		T	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	138.0	137.0	137.0		1535	5.1	0.8	6		137	0,8600		0,0,4300	no	missense	MAN1A1	NM_005907.2	194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	512/654	119510840	1,13005	2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119510840T>C	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1535A>G	6.37:g.119510840T>C	ENSP00000357453:p.Tyr512Cys						p.Y512C	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	10	1977	-		all_epithelial(87;0.173)	512			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1535A>G	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.672901	0.47781	2.27E-4	0.0	ENSG00000111885	ENST00000368468	T	0.75589	-0.95	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93725	0.7036	10	0.87932	D	0	-3.8439	14.9006	0.70675	0.0:0.0:0.0:1.0	.	512	P33908	MA1A1_HUMAN	C	512	ENSP00000357453:Y512C	ENSP00000357453:Y512C	Y	-	2	0	MAN1A1	119552539	1.000000	0.71417	0.783000	0.31826	0.074000	0.17049	8.008000	0.88588	1.911000	0.55334	0.533000	0.62120	TAT		PASS	0.463	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		6	109	6	109	---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130761936	130761936	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:130761936T>C	ENST00000296978.3	+	3	1240	c.369T>C	c.(367-369)gaT>gaC	p.D123D	TMEM200A_ENST00000545622.1_Silent_p.D123D|TMEM200A_ENST00000392429.1_Silent_p.D123D	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	123						integral component of membrane (GO:0016021)		p.D123D(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGCATTCTGATAAGATGAAAA	0.408																																						uc003qca.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(367-369)GAT>GAC		transmembrane protein 200A							93.0	80.0	85.0					6																	130761936		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130761936T>C	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.369T>C	6.37:g.130761936T>C						TMEM200A_uc010kfh.2_Silent_p.D123D|TMEM200A_uc010kfi.2_Silent_p.D123D|TMEM200A_uc003qcb.2_Silent_p.D123D	p.D123D	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1240	+			123			Extracellular (Potential).		Q96PX5	Silent	SNP	ENST00000296978.3	37	c.369T>C	CCDS5140.1																																																																																				PASS	0.408	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		41	12	41	12	---	---	---	---
SLC18B1	116843	broad.mit.edu	37	6	133100533	133100533	+	Silent	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:133100533T>A	ENST00000275227.4	-	7	765	c.669A>T	c.(667-669)ccA>ccT	p.P223P	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Silent_p.P97P	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	223					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.P223P(1)									AGTGTTCACCTGGATCAGACT	0.363																																						uc003qdw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(667-669)CCA>CCT		hypothetical protein LOC116843							125.0	123.0	124.0					6																	133100533		2203	4300	6503	SO:0001819	synonymous_variant	116843				transmembrane transport	integral to membrane		g.chr6:133100533T>A	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.669A>T	6.37:g.133100533T>A						C6orf192_uc010kgd.1_RNA|C6orf192_uc011eco.1_Silent_p.P97P	p.P223P	NM_052831	NP_439896	Q6NT16	CF192_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)	7	821	-			223			Cytoplasmic (Potential).		A8K1K3|B3KW77|Q6ISF2	Silent	SNP	ENST00000275227.4	37	c.669A>T	CCDS5163.1																																																																																				PASS	0.363	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831		56	17	56	17	---	---	---	---
SLC18B1	116843	broad.mit.edu	37	6	133118167	133118167	+	Missense_Mutation	SNP	C	C	A	rs367822370		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:133118167C>A	ENST00000275227.4	-	2	233	c.137G>T	c.(136-138)gGt>gTt	p.G46V	SLC18B1_ENST00000367918.1_Missense_Mutation_p.G46V|SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000538764.1_5'UTR	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	46					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.G46V(1)									CATCATGGAACCTAAGTTCAC	0.423																																						uc003qdw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(136-138)GGT>GTT		hypothetical protein LOC116843		C	VAL/GLY	1,4405		0,1,2202	102.0	106.0	105.0		137	5.3	0.4	6		105	0,8600		0,0,4300	no	missense	C6orf192	NM_052831.2	109	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	46/457	133118167	1,13005	2203	4300	6503	SO:0001583	missense	116843				transmembrane transport	integral to membrane		g.chr6:133118167C>A	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.137G>T	6.37:g.133118167C>A	ENSP00000275227:p.Gly46Val					C6orf192_uc011eco.1_5'UTR	p.G46V	NM_052831	NP_439896	Q6NT16	CF192_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)	2	289	-			46			Helical; (Potential).		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	c.137G>T	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226065	0.79576	2.27E-4	0.0	ENSG00000146409	ENST00000367919;ENST00000275227;ENST00000367918	T;T	0.56776	0.56;0.44	5.28	5.28	0.74379	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.141253	0.64402	D	0.000007	T	0.31295	0.0792	L	0.46947	1.48	0.80722	D	1	B	0.10296	0.003	B	0.16722	0.016	T	0.15694	-1.0428	10	0.15952	T	0.53	-3.3362	16.6817	0.85294	0.0:1.0:0.0:0.0	.	46	Q6NT16	CF192_HUMAN	V	46	ENSP00000275227:G46V;ENSP00000356895:G46V	ENSP00000275227:G46V	G	-	2	0	C6orf192	133159860	0.914000	0.31030	0.435000	0.26784	0.959000	0.62525	5.948000	0.70249	2.484000	0.83849	0.650000	0.86243	GGT		PASS	0.423	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831		50	25	50	25	---	---	---	---
MYB	4602	broad.mit.edu	37	6	135521455	135521455	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:135521455G>T	ENST00000367814.4	+	12	1675	c.1489G>T	c.(1489-1491)Gat>Tat	p.D497Y	MYB_ENST00000534044.1_Missense_Mutation_p.D497Y|MYB_ENST00000533624.1_Missense_Mutation_p.D462Y|MYB_ENST00000442647.2_Missense_Mutation_p.D494Y|MYB_ENST00000527615.1_Missense_Mutation_p.D497Y|MYB_ENST00000534121.1_Missense_Mutation_p.D602Y|MYB_ENST00000316528.8_Missense_Mutation_p.D497Y|MYB_ENST00000528774.1_Missense_Mutation_p.D615Y|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000341911.5_Missense_Mutation_p.D618Y|MYB_ENST00000525369.1_Missense_Mutation_p.D412Y	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	497					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	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)	p.D618Y(1)|p.D497Y(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TCTAGTAGAAGATCTGCAGGA	0.398			T	NFIB	adenoid cystic carcinoma																																	uc003qfc.2				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1489-1491)GAT>TAT		v-myb myeloblastosis viral oncogene homolog							107.0	105.0	106.0					6																	135521455		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135521455G>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1489G>T	6.37:g.135521455G>T	ENSP00000356788:p.Asp497Tyr					MYB_uc003qfh.2_Missense_Mutation_p.D618Y|MYB_uc003qfi.2_Missense_Mutation_p.D602Y|MYB_uc010kgi.2_Missense_Mutation_p.D497Y|MYB_uc003qfq.2_Missense_Mutation_p.D615Y|MYB_uc010kgj.2_Missense_Mutation_p.D462Y|MYB_uc003qfo.2_Missense_Mutation_p.D412Y|MYB_uc003qfu.2_Missense_Mutation_p.D494Y|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Missense_Mutation_p.D123Y|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.D309Y|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.D497Y	p.D497Y	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	12	1688	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	497					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1489G>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643617	0.67244	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	4.88	4.0	0.46444	C-myb, C-terminal (1);	0.322754	0.36665	N	0.002463	T	0.64182	0.2575	M	0.85859	2.78	0.35652	D	0.811852	D;D;D;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.517;1.0;1.0;1.0;1.0	D;D;D;D;B;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.334;1.0;0.999;0.996;1.0	T	0.74711	-0.3573	10	0.87932	D	0	-13.6188	14.8133	0.70010	0.0:0.0:0.8548:0.1452	.	462;497;494;615;412;602;618;497;497	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	Y	618;494;497;497;497;497;412;615;602;497;462	ENSP00000339992:D618Y;ENSP00000410825:D494Y;ENSP00000326328:D497Y;ENSP00000356788:D497Y;ENSP00000433227:D497Y;ENSP00000435938:D412Y;ENSP00000434723:D615Y;ENSP00000432851:D602Y;ENSP00000435055:D497Y;ENSP00000436605:D462Y	ENSP00000237302:D497Y	D	+	1	0	MYB	135563148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.310000	0.65780	1.171000	0.42768	0.655000	0.94253	GAT		PASS	0.398	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			51	22	51	22	---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149699963	149699963	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:149699963A>G	ENST00000367456.1	+	4	1489	c.912A>G	c.(910-912)tcA>tcG	p.S304S	TAB2_ENST00000392282.1_Silent_p.S304S|TAB2_ENST00000536230.1_Silent_p.S272S|TAB2_ENST00000286332.5_Silent_p.S304S|TAB2_ENST00000538427.1_Silent_p.S304S			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	304					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.S304S(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CTGGTAGCTCACAGTCTTCTG	0.413																																						uc003qmj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(910-912)TCA>TCG		mitogen-activated protein kinase kinase kinase 7							142.0	127.0	132.0					6																	149699963		2203	4300	6503	SO:0001819	synonymous_variant	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699963A>G	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.912A>G	6.37:g.149699963A>G						TAB2_uc011eec.1_Silent_p.S272S|TAB2_uc010kia.1_Silent_p.S304S|TAB2_uc010kib.1_Silent_p.S304S|TAB2_uc003qmk.3_RNA	p.S304S	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	1090	+			304					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Silent	SNP	ENST00000367456.1	37	c.912A>G	CCDS5214.1																																																																																				PASS	0.413	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			35	40	35	40	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151152718	151152718	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:151152718A>T	ENST00000358517.2	+	15	2682	c.2471A>T	c.(2470-2472)cAt>cTt	p.H824L	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.H824L			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	824							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H824L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCTATGCCTCATAAGCCTGTA	0.458																																						uc003qny.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2470-2472)CAT>CTT		pleckstrin homology domain containing, family G							128.0	130.0	129.0					6																	151152718		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152718A>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2471A>T	6.37:g.151152718A>T	ENSP00000351318:p.His824Leu					PLEKHG1_uc011eel.1_Missense_Mutation_p.H864L|PLEKHG1_uc011eem.1_Missense_Mutation_p.H883L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.H824L	p.H824L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2783	+			824					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2471A>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	A	5.862	0.343179	0.11069	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.59638	0.25;0.25	5.45	4.25	0.50352	.	0.579014	0.19041	N	0.124290	T	0.26159	0.0638	L	0.27053	0.805	0.09310	N	1	B;B;B	0.23735	0.011;0.09;0.039	B;B;B	0.20767	0.006;0.031;0.012	T	0.22382	-1.0218	10	0.66056	D	0.02	.	12.2678	0.54689	0.8578:0.1422:0.0:0.0	.	631;824;824	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	L	824	ENSP00000356297:H824L;ENSP00000351318:H824L	ENSP00000351318:H824L	H	+	2	0	PLEKHG1	151194411	0.836000	0.29430	0.005000	0.12908	0.015000	0.08874	4.606000	0.61126	0.862000	0.35528	0.496000	0.49642	CAT		PASS	0.458	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			7	115	7	115	---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152332811	152332811	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:152332811C>A	ENST00000206249.3	+	5	1479	c.1117C>A	c.(1117-1119)Cat>Aat	p.H373N	ESR1_ENST00000338799.5_Missense_Mutation_p.H373N|ESR1_ENST00000440973.1_Missense_Mutation_p.H373N|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_Missense_Mutation_p.H200N|ESR1_ENST00000443427.1_Missense_Mutation_p.H373N|ESR1_ENST00000456483.2_Missense_Mutation_p.H261N	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	373	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H373N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TTTGACCCTCCATGATCAGGT	0.468																																						uc003qom.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(1117-1119)CAT>AAT		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						132.0	120.0	124.0					6																	152332811		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152332811C>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1117C>A	6.37:g.152332811C>A	ENSP00000206249:p.His373Asn					ESR1_uc010kin.2_Missense_Mutation_p.H373N|ESR1_uc010kio.2_Missense_Mutation_p.H375N|ESR1_uc010kip.2_Missense_Mutation_p.H372N|ESR1_uc003qon.3_Missense_Mutation_p.H373N|ESR1_uc003qoo.3_Missense_Mutation_p.H373N|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.H42N|ESR1_uc011eex.1_Missense_Mutation_p.H154N|ESR1_uc010kit.1_Intron|ESR1_uc011eey.1_Missense_Mutation_p.H110N	p.H373N	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	7	1487	+		Ovarian(120;0.0448)	373			Steroid-binding.|Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1117C>A	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012912	0.75161	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488	D;D;D;D;D;T;T	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;1.45;0.83	5.32	5.32	0.75619	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	N	0.17082	0.46	0.80722	D	1	P;D;B;B;B;B	0.56035	0.552;0.974;0.053;0.113;0.08;0.098	P;P;B;B;B;B	0.60541	0.594;0.876;0.08;0.117;0.177;0.271	D	0.96599	0.9443	10	0.87932	D	0	.	18.994	0.92804	0.0:1.0:0.0:0.0	.	277;154;68;372;373;373	B0QYW6;E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372	.;.;.;.;.;ESR1_HUMAN	N	373;373;261;154;373;373;301;200;46	ENSP00000405330:H373N;ENSP00000342630:H373N;ENSP00000415934:H261N;ENSP00000387500:H373N;ENSP00000206249:H373N;ENSP00000445454:H200N;ENSP00000401995:H46N	ENSP00000206249:H373N	H	+	1	0	ESR1	152374504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.745000	0.55119	2.494000	0.84150	0.591000	0.81541	CAT		PASS	0.468	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			64	26	64	26	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715692	165715692	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:165715692T>A	ENST00000230301.8	-	2	139	c.119A>T	c.(118-120)aAt>aTt	p.N40I	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	40								p.N40I(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTTCTTCAGATTACACAGGGT	0.542																																						uc003qum.3																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)AAT>ATT		hypothetical protein LOC168090							77.0	85.0	83.0					6																	165715692		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715692T>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.119A>T	6.37:g.165715692T>A	ENSP00000230301:p.Asn40Ile					C6orf118_uc011egi.1_RNA	p.N40I	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	155	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	40					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.119A>T	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.907764	0.33721	.	.	ENSG00000112539	ENST00000230301	T	0.13538	2.58	2.42	-0.86	0.10680	.	0.444409	0.22869	N	0.054659	T	0.11836	0.0288	L	0.61218	1.895	0.09310	N	1	D	0.69078	0.997	D	0.65010	0.931	T	0.06734	-1.0810	10	0.87932	D	0	-32.3679	3.7308	0.08492	0.1736:0.0:0.2771:0.5493	.	40	Q5T5N4	CF118_HUMAN	I	40	ENSP00000230301:N40I	ENSP00000230301:N40I	N	-	2	0	C6orf118	165635682	0.008000	0.16893	0.001000	0.08648	0.010000	0.07245	0.828000	0.27435	-0.157000	0.11059	-0.443000	0.05667	AAT		PASS	0.542	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		7	48	7	48	---	---	---	---
FAM220A	84792	broad.mit.edu	37	7	6370547	6370547	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:6370547C>A	ENST00000313324.4	-	2	706	c.239G>T	c.(238-240)gGc>gTc	p.G80V	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	80						nucleus (GO:0005634)		p.G80V(1)									AAGCACTGGGCCGCCACTGTG	0.517																																						uc003spu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)GGC>GTC		hypothetical protein LOC84792							31.0	33.0	33.0					7																	6370547		2203	4300	6503	SO:0001583	missense	84792					nucleus		g.chr7:6370547C>A	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.239G>T	7.37:g.6370547C>A	ENSP00000317289:p.Gly80Val						p.G80V	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN			2	707	-			80					Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	c.239G>T	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562153	0.27915	.	.	ENSG00000178397	ENST00000313324;ENST00000524898;ENST00000530143	T;T;T	0.08008	3.14;3.14;3.14	4.91	-9.82	0.00484	.	1.751570	0.04061	U	0.306310	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	B	0.25169	0.119	B	0.21917	0.037	T	0.36261	-0.9755	10	0.17832	T	0.49	.	1.0691	0.01617	0.2144:0.3361:0.2078:0.2418	.	80	Q7Z4H9	SIPAR_HUMAN	V	80	ENSP00000317289:G80V;ENSP00000432444:G80V;ENSP00000436886:G80V	ENSP00000317289:G80V	G	-	2	0	C7orf70	6337072	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.172000	0.09868	-1.794000	0.01256	-0.290000	0.09829	GGC		PASS	0.517	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		20	20	20	20	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7645637	7645637	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:7645637C>T	ENST00000340080.4	+	12	2887	c.2466C>T	c.(2464-2466)aaC>aaT	p.N822N	MIOS_ENST00000405785.1_Silent_p.N822N	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	822						lysosomal membrane (GO:0005765)		p.N822N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTTAACAACTGGTTTACAT	0.378																																						uc003srf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2464-2466)AAC>AAT		missing oocyte, meiosis regulator, homolog							204.0	189.0	194.0					7																	7645637		1925	4133	6058	SO:0001819	synonymous_variant	54468							g.chr7:7645637C>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2466C>T	7.37:g.7645637C>T						MIOS_uc003srg.2_Silent_p.N357N|MIOS_uc010ktq.2_Silent_p.N217N	p.N822N	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			12	2774	+			822					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.2466C>T	CCDS43554.1																																																																																				PASS	0.378	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		66	56	66	56	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14722261	14722261	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:14722261G>T	ENST00000403951.2	-	12	1371	c.952C>A	c.(952-954)Cca>Aca	p.P318T	DGKB_ENST00000399322.3_Missense_Mutation_p.P318T|DGKB_ENST00000402815.1_Missense_Mutation_p.P318T|DGKB_ENST00000406247.3_Missense_Mutation_p.P318T|DGKB_ENST00000407950.1_Missense_Mutation_p.P311T|DGKB_ENST00000444700.2_Missense_Mutation_p.P311T|DGKB_ENST00000258767.5_Missense_Mutation_p.P318T|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	318					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.P318T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CACTTGGTTGGGCAGTTACCT	0.433																																						uc003ssz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(952-954)CCA>ACA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						192.0	182.0	185.0					7																	14722261		2000	4176	6176	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14722261G>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.952C>A	7.37:g.14722261G>T	ENSP00000385780:p.Pro318Thr					DGKB_uc011jxt.1_Missense_Mutation_p.P311T|DGKB_uc003sta.2_Missense_Mutation_p.P318T|DGKB_uc011jxu.1_Missense_Mutation_p.P318T	p.P318T	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			11	1139	-			318			Phorbol-ester/DAG-type 2.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.952C>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506805	0.26949	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.97	5.97	0.96955	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.055010	0.64402	D	0.000001	D	0.91516	0.7321	L	0.53617	1.68	0.49483	D	0.999798	B;B;B;B	0.14438	0.003;0.0;0.001;0.01	B;B;B;B	0.20767	0.031;0.003;0.003;0.024	D	0.86865	0.2032	10	0.37606	T	0.19	.	15.959	0.79914	0.0:0.0:0.8646:0.1354	.	318;311;318;318	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	T	318;318;318;318;311;311;318	ENSP00000385780:P318T;ENSP00000382260:P318T;ENSP00000258767:P318T;ENSP00000384909:P318T;ENSP00000385031:P311T;ENSP00000388451:P311T;ENSP00000386066:P318T	ENSP00000258767:P318T	P	-	1	0	DGKB	14688786	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.675000	0.74493	2.835000	0.97688	0.591000	0.81541	CCA		PASS	0.433	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		29	49	29	49	---	---	---	---
AGMO	392636	broad.mit.edu	37	7	15599845	15599845	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:15599845T>A	ENST00000342526.3	-	2	347	c.178A>T	c.(178-180)Att>Ttt	p.I60F		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	60					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.I60F(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CCTTTGAGAATCCAGCTGACA	0.428																																						uc003stb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)ATT>TTT		transmembrane protein 195							101.0	94.0	96.0					7																	15599845		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599845T>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.178A>T	7.37:g.15599845T>A	ENSP00000341662:p.Ile60Phe						p.I60F	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			2	348	-			60			Helical; (Potential).		A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.178A>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.858043	0.32791	.	.	ENSG00000187546	ENST00000342526	T	0.31769	1.48	5.93	3.48	0.39840	.	0.272377	0.38326	N	0.001729	T	0.18002	0.0432	L	0.38649	1.16	0.45415	D	0.998399	B	0.20671	0.047	B	0.15052	0.012	T	0.08146	-1.0736	10	0.08837	T	0.75	-9.2529	5.488	0.16761	0.0:0.1608:0.2741:0.5651	.	60	Q6ZNB7	ALKMO_HUMAN	F	60	ENSP00000341662:I60F	ENSP00000341662:I60F	I	-	1	0	AGMO	15566370	0.929000	0.31497	0.988000	0.46212	0.666000	0.39218	-0.030000	0.12308	0.452000	0.26830	0.533000	0.62120	ATT		PASS	0.428	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		23	47	23	47	---	---	---	---
ANKMY2	57037	broad.mit.edu	37	7	16642048	16642048	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:16642048C>A	ENST00000306999.2	-	9	1341	c.1098G>T	c.(1096-1098)aaG>aaT	p.K366N		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	366						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.K366N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCAACTGTTGCTTTTCGTAAA	0.373																																						uc003sti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1096-1098)AAG>AAT		ankyrin repeat and MYND domain containing 2							171.0	165.0	167.0					7																	16642048		2202	4299	6501	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16642048C>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1098G>T	7.37:g.16642048C>A	ENSP00000303570:p.Lys366Asn					ANKMY2_uc010ktz.2_RNA	p.K366N	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	9	1298	-	Lung NSC(10;0.103)|all_lung(11;0.204)		366					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.1098G>T	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245425	0.39697	.	.	ENSG00000106524	ENST00000306999	T	0.72835	-0.69	5.44	3.47	0.39725	.	0.090445	0.64402	D	0.000001	T	0.57489	0.2057	L	0.34521	1.04	0.46609	D	0.999128	P	0.34462	0.454	B	0.32677	0.15	T	0.56589	-0.7954	10	0.72032	D	0.01	-28.1707	9.7705	0.40587	0.0:0.7617:0.0:0.2383	.	366	Q8IV38	ANKY2_HUMAN	N	366	ENSP00000303570:K366N	ENSP00000303570:K366N	K	-	3	2	ANKMY2	16608573	0.998000	0.40836	1.000000	0.80357	0.613000	0.37349	0.606000	0.24194	0.532000	0.28657	0.563000	0.77884	AAG		PASS	0.373	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		53	78	53	78	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20691071	20691071	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:20691071C>G	ENST00000404938.2	+	13	2013	c.1361C>G	c.(1360-1362)gCt>gGt	p.A454G	ABCB5_ENST00000258738.6_Missense_Mutation_p.A9G|ABCB5_ENST00000443026.2_Missense_Mutation_p.A9G|ABCB5_ENST00000406935.1_Missense_Mutation_p.A9G|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	454	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.A9G(2)|p.A454G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GACATCAGAGCTTTAAATGTG	0.403																																						uc003suw.3																			3	Substitution - Missense(3)		lung(3)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(25-27)GCT>GGT		ATP-binding cassette, sub-family B, member 5							159.0	140.0	147.0					7																	20691071		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20691071C>G	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1361C>G	7.37:g.20691071C>G	ENSP00000384881:p.Ala454Gly					ABCB5_uc010kuh.2_Missense_Mutation_p.A454G|ABCB5_uc003suv.3_Missense_Mutation_p.A9G|ABCB5_uc011jyi.1_Missense_Mutation_p.A9G	p.A9G	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			4	572	+			9			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.26C>G	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	9.950	1.220007	0.22373	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	4.2	2.35	0.29111	ABC transporter-like (2);	0.336075	0.24141	N	0.041161	D	0.83830	0.5339	L	0.28556	0.865	0.33557	D	0.596806	B;B;B;B	0.19331	0.021;0.001;0.017;0.035	B;B;B;B	0.25987	0.045;0.012;0.065;0.043	T	0.81972	-0.0688	10	0.49607	T	0.09	.	9.0368	0.36293	0.0:0.7669:0.1493:0.0838	.	9;454;9;9	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	G	454;9;9;9	ENSP00000384881:A454G;ENSP00000406730:A9G;ENSP00000383899:A9G;ENSP00000258738:A9G	ENSP00000258738:A9G	A	+	2	0	ABCB5	20657596	0.009000	0.17119	0.295000	0.24960	0.097000	0.18754	1.954000	0.40362	0.699000	0.31761	0.591000	0.81541	GCT		PASS	0.403	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		18	18	18	18	---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23213843	23213843	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:23213843G>T	ENST00000339077.5	+	11	1930	c.1687G>T	c.(1687-1689)Gct>Tct	p.A563S	KLHL7_ENST00000545443.1_Missense_Mutation_p.A541S|KLHL7_ENST00000542558.1_Missense_Mutation_p.A338S|KLHL7_ENST00000322231.7_Missense_Mutation_p.A541S|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000409689.1_Missense_Mutation_p.A515S|KLHL7_ENST00000539124.1_Missense_Mutation_p.A487S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	563					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.A563S(1)|p.A541S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAAAGTTCGTGCTTTTCCAGT	0.403																																						uc003svs.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1687-1689)GCT>TCT		kelch-like 7 isoform 1							182.0	175.0	177.0					7																	23213843		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23213843G>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1687G>T	7.37:g.23213843G>T	ENSP00000343273:p.Ala563Ser					KLHL7_uc003svr.3_Missense_Mutation_p.A541S|KLHL7_uc011jys.1_Missense_Mutation_p.A487S|KLHL7_uc011jyt.1_Missense_Mutation_p.A338S|KLHL7_uc003svt.2_Missense_Mutation_p.A515S|KLHL7_uc011jyv.1_Missense_Mutation_p.A293S	p.A563S	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			11	1980	+			563			Kelch 6.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1687G>T	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331108	0.81690	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.72505	-0.55;-0.54;-0.5;-0.66;-0.54;-0.55	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	N	0.14661	0.345	0.58432	D	0.999993	B;P;B	0.36616	0.046;0.561;0.428	B;B;B	0.42555	0.12;0.219;0.391	T	0.55866	-0.8073	10	0.06625	T	0.88	.	19.3302	0.94283	0.0:0.0:1.0:0.0	.	338;563;541	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	S	404;541;563;487;338;515;541	ENSP00000322958:A541S;ENSP00000343273:A563S;ENSP00000441136:A487S;ENSP00000442367:A338S;ENSP00000386263:A515S;ENSP00000442366:A541S	ENSP00000322958:A541S	A	+	1	0	KLHL7	23180368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.330000	0.79181	2.566000	0.86566	0.655000	0.94253	GCT		PASS	0.403	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		27	45	27	45	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30830854	30830854	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:30830854G>A	ENST00000265299.6	+	5	814	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	246				R -> G (in Ref. 1; AAQ10898). {ECO:0000305}.				p.R246Q(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAGAGAGCCGGAAGGTCCCT	0.547																																						uc003tbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)CGG>CAG		hypothetical protein LOC84182							107.0	115.0	113.0					7																	30830854		1949	4148	6097	SO:0001583	missense	84182							g.chr7:30830854G>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.737G>A	7.37:g.30830854G>A	ENSP00000265299:p.Arg246Gln					FAM188B_uc010kwe.2_Missense_Mutation_p.R217Q	p.R246Q	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			5	814	+			246	R -> G (in Ref. 1; AAQ10898).				Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.737G>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	4.555	0.103153	0.08731	.	.	ENSG00000106125	ENST00000265299	T	0.03242	4.0	3.64	-2.9	0.05648	.	1.895920	0.02240	N	0.065682	T	0.02119	0.0066	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.45279	-0.9272	10	0.87932	D	0	-16.9375	2.4603	0.04539	0.1862:0.421:0.2499:0.143	.	246	Q4G0A6	F188B_HUMAN	Q	246	ENSP00000265299:R246Q	ENSP00000265299:R246Q	R	+	2	0	FAM188B	30797379	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.399000	0.01050	-0.661000	0.05345	0.563000	0.77884	CGG		PASS	0.547	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		54	104	54	104	---	---	---	---
SEPT7	989	broad.mit.edu	37	7	35903268	35903269	+	Splice_Site	DNP	GG	GG	TT			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:35903268_35903269GG>TT	ENST00000435235.1	+	3	549	c.117_117GG>TT	c.(115-117)caGG>caTTg	p.Q39H	SEPT7_ENST00000350320.6_Splice_Site_p.Q91H|SEPT7_ENST00000469679.2_Splice_Site_p.Q91H|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000399034.2_Splice_Site_p.Q93H|SEPT7_ENST00000494488.2_Splice_Site_p.Q78H|SEPT7_ENST00000399035.3_Splice_Site_p.Q91H			Q16181	SEPT7_HUMAN	septin 7	92					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.?(2)|p.Q93H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AGACTGTACAGGTATGGATATT	0.337																																						uc010kxc.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)		0						c.(274-276)CAG>CAT|c.e3+1		cell division cycle 10 isoform 1																																				SO:0001630	splice_region_variant	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35903268G>T|g.chr7:35903269G>T	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	Exception_encountered	7.37:g.35903268_35903269delinsTT						SEPT7_uc011kat.1_Missense_Mutation_p.Q91H|SEPT7_uc011kau.1_Missense_Mutation_p.Q56H|SEPT7_uc011kav.1_Missense_Mutation_p.Q39H|SEPT7_uc003tey.2_Translation_Start_Site|SEPT7_uc011kat.1_Splice_Site_p.Q91_splice|SEPT7_uc011kau.1_Splice_Site_p.Q56_splice|SEPT7_uc011kav.1_Splice_Site_p.Q39_splice|SEPT7_uc003tey.2_Splice_Site	p.Q92H|p.Q92_splice	NM_001788	NP_001779	Q16181	SEPT7_HUMAN			3	469	+			92|					Q52M76|Q6NX50	Missense_Mutation|Splice_Site	SNP	ENST00000435235.1	37	c.276G>T|c.276_splice																																																																																					PASS	0.337	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788	Missense_Mutation	10	22	10	22	---	---	---	---
AOAH	313	broad.mit.edu	37	7	36662852	36662852	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:36662852T>C	ENST00000258749.5	-	7	925	c.526A>G	c.(526-528)Atg>Gtg	p.M176V	AOAH_ENST00000535891.1_Missense_Mutation_p.M144V|AOAH_ENST00000431169.1_Missense_Mutation_p.M176V	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	176					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.M176V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GACTGTTCCATAGCTCTAGGA	0.358																																						uc003tfh.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(526-528)ATG>GTG		acyloxyacyl hydrolase precursor							127.0	109.0	115.0					7																	36662852		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36662852T>C	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.526A>G	7.37:g.36662852T>C	ENSP00000258749:p.Met176Val					AOAH_uc010kxf.2_Missense_Mutation_p.M176V|AOAH_uc011kba.1_Missense_Mutation_p.M144V	p.M176V	NM_001637	NP_001628	P28039	AOAH_HUMAN			7	927	-			176					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.526A>G	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	T	0.048	-1.260833	0.01445	.	.	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T	0.75821	2.07;-0.93;-0.97	4.4	1.96	0.26148	.	0.337088	0.28742	N	0.014300	T	0.51568	0.1682	.	.	.	0.25897	N	0.983403	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24799	-1.0150	9	0.16896	T	0.51	.	5.2441	0.15487	0.1788:0.0:0.1869:0.6342	.	144;176;176	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	V	144;176;176;176	ENSP00000441101:M144V;ENSP00000258749:M176V;ENSP00000405683:M176V	ENSP00000258749:M176V	M	-	1	0	AOAH	36629377	0.128000	0.22383	0.195000	0.23364	0.384000	0.30261	0.493000	0.22451	0.430000	0.26230	-0.336000	0.08194	ATG		PASS	0.358	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		18	27	18	27	---	---	---	---
MYL7	58498	broad.mit.edu	37	7	44179956	44179956	+	Silent	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:44179956G>C	ENST00000223364.3	-	4	290	c.264C>G	c.(262-264)acC>acG	p.T88T	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Silent_p.T61T	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	88						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.T88T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TGAGGAAGACGGTGAAGTTGA	0.637																																						uc003tkg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)ACC>ACG		myosin light chain 2a							146.0	122.0	130.0					7																	44179956		2203	4300	6503	SO:0001819	synonymous_variant	58498				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity	g.chr7:44179956G>C	M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.264C>G	7.37:g.44179956G>C							p.T88T	NM_021223	NP_067046	Q01449	MLRA_HUMAN			4	276	-			88					B2R4L3	Silent	SNP	ENST00000223364.3	37	c.264C>G	CCDS5478.1	.	.	.	.	.	.	.	.	.	.	G	7.793	0.711907	0.15306	.	.	ENSG00000106631	ENST00000431007	.	.	.	4.56	-4.63	0.03359	.	.	.	.	.	T	0.36026	0.0952	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35276	-0.9795	4	.	.	.	.	0.9667	0.01407	0.3813:0.0993:0.2406:0.2789	.	.	.	.	G	101	.	.	R	-	1	0	MYL7	44146481	0.000000	0.05858	0.940000	0.37924	0.964000	0.63967	-3.980000	0.00321	-0.996000	0.03455	-1.079000	0.02226	CGT		PASS	0.637	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		4	92	4	92	---	---	---	---
CAMK2B	816	broad.mit.edu	37	7	44323773	44323773	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:44323773C>T	ENST00000395749.2	-	2	193	c.117G>A	c.(115-117)gaG>gaA	p.E39E	CAMK2B_ENST00000350811.3_Silent_p.E39E|CAMK2B_ENST00000258682.6_Silent_p.E39E|CAMK2B_ENST00000347193.4_Silent_p.E39E|CAMK2B_ENST00000353625.4_Silent_p.E39E|CAMK2B_ENST00000457475.1_Silent_p.E39E|CAMK2B_ENST00000395747.2_Silent_p.E39E|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000440254.2_Silent_p.E39E|CAMK2B_ENST00000346990.4_Silent_p.E39E|CAMK2B_ENST00000358707.3_Silent_p.E39E	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	39	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.E39E(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGGCTGCATACTCATGGCCGG	0.597																																						uc003tkq.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(115-117)GAG>GAA		calcium/calmodulin-dependent protein kinase II							148.0	116.0	127.0					7																	44323773		2202	4300	6502	SO:0001819	synonymous_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44323773C>T	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.117G>A	7.37:g.44323773C>T						CAMK2B_uc003tkp.2_Silent_p.E39E|CAMK2B_uc003tkx.2_Silent_p.E39E|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.E39E|CAMK2B_uc003tks.2_Silent_p.E39E|CAMK2B_uc003tku.2_Silent_p.E39E|CAMK2B_uc003tkv.2_Silent_p.E39E|CAMK2B_uc003tkt.2_Silent_p.E39E|CAMK2B_uc003tkw.2_Silent_p.E39E|CAMK2B_uc010kyc.2_Silent_p.E39E	p.E39E	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			2	327	-			39			Protein kinase.		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	c.117G>A	CCDS5483.1																																																																																				PASS	0.597	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		5	28	5	28	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47851492	47851492	+	Missense_Mutation	SNP	C	C	T	rs371450996		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:47851492C>T	ENST00000289672.2	-	50	7554	c.7504G>A	c.(7504-7506)Gtc>Atc	p.V2502I	C7orf69_ENST00000258776.4_Intron|PKD1L1_ENST00000462350.1_5'Flank|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2502					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V2502I(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGAGGGGACGAGACTCCCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19794	0.001		0.0	False		,,,				2504	0.0					uc003tny.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(7504-7506)GTC>ATC		polycystin-1L1		C	,ILE/VAL	0,4406		0,0,2203	65.0	53.0	57.0		,7504	-4.2	0.0	7		57	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	C7orf69,PKD1L1	NM_025031.2,NM_138295.3	,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,2502/2850	47851492	1,13005	2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47851492C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7504G>A	7.37:g.47851492C>T	ENSP00000289672:p.Val2502Ile					C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.V229I	p.V2502I	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			50	7504	-			2502			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.7504G>A	CCDS34633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.437|5.437	0.265776|0.265776	0.10294|0.10294	0.0|0.0	1.16E-4|1.16E-4	ENSG00000158683|ENSG00000158683	ENST00000433506|ENST00000289672	.|T	.|0.69435	.|-0.4	5.49|5.49	-4.15|-4.15	0.03881|0.03881	.|Polycystin cation channel, PKD1/PKD2 (1);	.|0.833648	.|0.10410	.|N	.|0.678021	T|T	0.45276|0.45276	0.1334|0.1334	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.08055	.|0.003	T|T	0.31308|0.31308	-0.9948|-0.9948	5|10	.|0.15952	.|T	.|0.53	-6.4556|-6.4556	9.0305|9.0305	0.36256|0.36256	0.0:0.26:0.1277:0.6124|0.0:0.26:0.1277:0.6124	.|.	.|2502	.|Q8TDX9	.|PK1L1_HUMAN	H|I	92|2502	.|ENSP00000289672:V2502I	.|ENSP00000289672:V2502I	R|V	-|-	2|1	0|0	PKD1L1|PKD1L1	47818017|47818017	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.032000|-1.032000	0.03574|0.03574	-0.616000|-0.616000	0.05671|0.05671	-1.276000|-1.276000	0.01395|0.01395	CGT|GTC		PASS	0.592	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		4	9	4	9	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48312761	48312761	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:48312761G>C	ENST00000435803.1	+	17	3522	c.3498G>C	c.(3496-3498)aaG>aaC	p.K1166N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1166					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K1111N(1)|p.K1166N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AATTATTTAAGTTTGACATGA	0.373																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(3496-3498)AAG>AAC		ATP binding cassette, sub-family A (ABC1),							96.0	91.0	93.0					7																	48312761		1842	4095	5937	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312761G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3498G>C	7.37:g.48312761G>C	ENSP00000411096:p.Lys1166Asn					ABCA13_uc010kyr.2_Missense_Mutation_p.K669N	p.K1166N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	3523	+			1166					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.3498G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	6.731	0.503578	0.12822	.	.	ENSG00000179869	ENST00000435803	D	0.88664	-2.41	5.64	1.72	0.24424	.	0.268627	0.25887	N	0.027644	T	0.80210	0.4581	L	0.48642	1.525	0.09310	N	0.999999	B	0.34372	0.451	B	0.30179	0.112	T	0.67432	-0.5672	9	.	.	.	.	4.5048	0.11881	0.3129:0.0:0.5332:0.1539	.	1166	Q86UQ4	ABCAD_HUMAN	N	1166	ENSP00000411096:K1166N	.	K	+	3	2	ABCA13	48283307	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.002000	0.13061	0.386000	0.24997	0.563000	0.77884	AAG		PASS	0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		13	52	13	52	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48317834	48317834	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:48317834A>G	ENST00000435803.1	+	18	7067	c.7043A>G	c.(7042-7044)aAt>aGt	p.N2348S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2348					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.N2293S(1)|p.N2348S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATATTAGACAATGGAGAATTT	0.294																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7042-7044)AAT>AGT		ATP binding cassette, sub-family A (ABC1),							43.0	43.0	43.0					7																	48317834		1787	4061	5848	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48317834A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7043A>G	7.37:g.48317834A>G	ENSP00000411096:p.Asn2348Ser						p.N2348S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7068	+			2348					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7043A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.923944	0.34002	.	.	ENSG00000179869	ENST00000435803	T	0.57436	0.4	4.64	-0.687	0.11320	.	0.367285	0.23065	N	0.052335	T	0.41743	0.1172	M	0.61703	1.905	0.09310	N	1	B	0.30584	0.286	B	0.19391	0.025	T	0.31194	-0.9952	10	0.62326	D	0.03	.	7.6525	0.28356	0.6163:0.0:0.3837:0.0	.	2348	Q86UQ4	ABCAD_HUMAN	S	2348	ENSP00000411096:N2348S	ENSP00000411096:N2348S	N	+	2	0	ABCA13	48288380	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	0.484000	0.22308	-0.296000	0.08947	0.460000	0.39030	AAT		PASS	0.294	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		8	13	8	13	---	---	---	---
VSTM2A	222008	broad.mit.edu	37	7	54617574	54617574	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:54617574C>T	ENST00000407838.3	+	4	751	c.345C>T	c.(343-345)tcC>tcT	p.S115S	VSTM2A_ENST00000404951.1_Silent_p.S115S|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000302287.3_Silent_p.S115S|VSTM2A_ENST00000402026.2_Silent_p.S114S|VSTM2A_ENST00000402613.3_Silent_p.S115S	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	115	Ig-like V-type.					extracellular region (GO:0005576)		p.S115S(1)|p.S114S(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TTCAGATTTCCAAAGTGAGGA	0.423																																						uc010kzf.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(343-345)TCC>TCT		V-set and transmembrane domain containing 2							47.0	46.0	46.0					7																	54617574		2203	4300	6503	SO:0001819	synonymous_variant	222008					extracellular region		g.chr7:54617574C>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.345C>T	7.37:g.54617574C>T						VSTM2A_uc010kze.2_Silent_p.S115S|VSTM2A_uc003tqc.3_Silent_p.S115S	p.S115S	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	750	+			115			Ig-like V-type.		A4D2E9|B5MC94	Silent	SNP	ENST00000407838.3	37	c.345C>T	CCDS5512.2																																																																																				PASS	0.423	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		9	18	9	18	---	---	---	---
SEPT14	346288	broad.mit.edu	37	7	55874819	55874820	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:55874819_55874820CC>AA	ENST00000388975.3	-	8	1065_1066	c.949_950GG>TT	c.(949-951)GGc>TTc	p.G317F		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	317					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.G106V(1)|p.G317C(1)|p.G317F(1)|p.G317V(1)|p.G106F(1)|p.G106C(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)			ATCTGTAAAGCCCATTTTCTGC	0.386																																						uc003tqz.2																			6	Substitution - Missense(6)		lung(6)		0						c.(949-951)GGC>GTC|c.(949-951)GGC>TGC		septin 14																																				SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874819C>A|g.chr7:55874820C>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.949_950delinsAA	7.37:g.55874819_55874820delinsAA	ENSP00000373627:p.Gly317Phe						p.G317V|p.G317C	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1067|1066	-	Breast(14;0.214)		317					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.950G>T|c.949G>T	CCDS5519.2																																																																																				PASS	0.386	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		21	33|32	21	32	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57193725	57193725	+	Splice_Site	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:57193725C>G	ENST00000331162.4	-	4	532	c.262G>C	c.(262-264)Gtt>Ctt	p.V88L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	88					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.V88L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCACCTACCTGGGTGTTTG	0.458																																						uc010kzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(262-264)GTT>CTT		zinc finger protein 479							79.0	84.0	82.0					7																	57193725		2061	4102	6163	SO:0001630	splice_region_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57193725C>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.262+1G>C	7.37:g.57193725C>G							p.V88L	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		4	533	-			88						Missense_Mutation	SNP	ENST00000331162.4	37	c.262G>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	6.585	0.476335	0.12521	.	.	ENSG00000185177	ENST00000331162	T	0.06449	3.3	1.25	1.25	0.21368	.	.	.	.	.	T	0.06826	0.0174	M	0.67397	2.05	0.19300	N	0.999977	P	0.43431	0.807	B	0.35182	0.197	T	0.29701	-1.0003	8	.	.	.	.	5.8275	0.18562	0.0:1.0:0.0:0.0	.	88	Q96JC4	ZN479_HUMAN	L	88	ENSP00000333776:V88L	.	V	-	1	0	ZNF479	57197667	0.000000	0.05858	0.440000	0.26846	0.097000	0.18754	-0.934000	0.03955	0.669000	0.31146	0.393000	0.25936	GTT		PASS	0.458	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	Missense_Mutation	35	57	35	57	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71488657	71488657	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:71488657G>T	ENST00000329008.5	-	4	658	c.360C>A	c.(358-360)gaC>gaA	p.D120E	CALN1_ENST00000412588.1_Missense_Mutation_p.D162E|CALN1_ENST00000431984.1_Missense_Mutation_p.D120E|CALN1_ENST00000405452.2_Missense_Mutation_p.D120E|CALN1_ENST00000395275.2_Missense_Mutation_p.D162E|CALN1_ENST00000395276.2_Missense_Mutation_p.D120E	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.D120E(1)|p.D162E(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGAATATGCTGTCTATCGTGT	0.408																																						uc003twa.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(358-360)GAC>GAA		calneuron 1 isoform 2							113.0	107.0	109.0					7																	71488657		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71488657G>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.360C>A	7.37:g.71488657G>T	ENSP00000332498:p.Asp120Glu					CALN1_uc003twb.3_Missense_Mutation_p.D162E|CALN1_uc003twc.3_Missense_Mutation_p.D120E	p.D120E	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			4	887	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	120			Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.360C>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028163	0.54790	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.74315	0.15;0.15;0.15;0.15;0.15;0.15;-0.83	5.87	-3.69	0.04450	.	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	L	0.32530	0.975	0.35465	D	0.796853	P;P	0.41910	0.764;0.764	B;B	0.40825	0.341;0.341	T	0.62044	-0.6937	10	0.27785	T	0.31	-10.2185	14.6043	0.68466	0.3308:0.0:0.6692:0.0	.	120;120	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	E	120;162;120;120;162;120;120	ENSP00000332498:D120E;ENSP00000378690:D162E;ENSP00000378691:D120E;ENSP00000410704:D120E;ENSP00000391882:D162E;ENSP00000384354:D120E;ENSP00000411806:D120E	ENSP00000332498:D120E	D	-	3	2	CALN1	71126593	0.993000	0.37304	0.980000	0.43619	0.992000	0.81027	0.264000	0.18497	-0.565000	0.06061	-0.302000	0.09304	GAC		PASS	0.408	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		18	7	18	7	---	---	---	---
SRRM3	222183	broad.mit.edu	37	7	75894703	75894703	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:75894703C>A	ENST00000326382.8	+	10	954	c.747C>A	c.(745-747)ggC>ggA	p.G249G	SRRM3_ENST00000388802.4_Silent_p.G249G	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	249	Arg-rich.|Ser-rich.							p.G249G(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						AGTCCCCAGGCCGGAGGTCTC	0.642																																						uc010ldi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(745-747)GGC>GGA		serine/arginine repetitive matrix 3							47.0	48.0	48.0					7																	75894703		1568	3582	5150	SO:0001819	synonymous_variant	222183							g.chr7:75894703C>A	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.747C>A	7.37:g.75894703C>A						SRRM3_uc011kgi.1_5'UTR	p.G249G	NM_001110199	NP_001103669					10	956	+								A6ND75	Silent	SNP	ENST00000326382.8	37	c.747C>A																																																																																					PASS	0.642	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199		4	9	4	9	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82583557	82583557	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:82583557C>A	ENST00000333891.9	-	5	7049	c.6712G>T	c.(6712-6714)Gac>Tac	p.D2238Y	PCLO_ENST00000423517.2_Missense_Mutation_p.D2238Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D2238Y(2)|p.D2169Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGGATAGTCTATAATGCTG	0.373																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(6712-6714)GAC>TAC		piccolo isoform 1							58.0	56.0	56.0					7																	82583557		1824	4084	5908	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583557C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6712G>T	7.37:g.82583557C>A	ENSP00000334319:p.Asp2238Tyr					PCLO_uc003uhv.2_Missense_Mutation_p.D2238Y|PCLO_uc010lec.2_5'Flank	p.D2238Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	7001	-			2169						Missense_Mutation	SNP	ENST00000333891.9	37	c.6712G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590678	0.13812	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16897	2.31;2.31	5.77	4.88	0.63580	.	.	.	.	.	T	0.23451	0.0567	L	0.44542	1.39	0.80722	D	1	D;D	0.54964	0.969;0.969	P;P	0.54100	0.742;0.742	T	0.00366	-1.1786	9	0.87932	D	0	.	8.1721	0.31260	0.0:0.7523:0.0:0.2477	.	2238;2238	Q9Y6V0-5;Q9Y6V0-6	.;.	Y	2169;2238;2238	ENSP00000334319:D2238Y;ENSP00000388393:D2238Y	ENSP00000334319:D2238Y	D	-	1	0	PCLO	82421493	0.997000	0.39634	0.997000	0.53966	0.984000	0.73092	2.646000	0.46630	2.724000	0.93272	0.650000	0.86243	GAC		PASS	0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		15	8	15	8	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87150161	87150161	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:87150161G>T	ENST00000265724.3	-	23	3134	c.2717C>A	c.(2716-2718)aCc>aAc	p.T906N	ABCB1_ENST00000543898.1_Missense_Mutation_p.T842N|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	906	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.T906N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGAAACAACGGTTCGGAAGTT	0.418																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2716-2718)ACC>AAC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						119.0	108.0	112.0					7																	87150161		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87150161G>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2717C>A	7.37:g.87150161G>T	ENSP00000265724:p.Thr906Asn					ABCB1_uc011khc.1_Missense_Mutation_p.T842N	p.T906N	NM_000927	NP_000918	P08183	MDR1_HUMAN			23	3135	-	Esophageal squamous(14;0.00164)		906			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2717C>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901588	0.92035	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94376	-3.41;-3.41	5.28	5.28	0.74379	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99568	1.0970	10	0.87932	D	0	-25.7399	18.9356	0.92584	0.0:0.0:1.0:0.0	.	842;906	B5AK60;P08183	.;MDR1_HUMAN	N	687;906;842	ENSP00000265724:T906N;ENSP00000444095:T842N	ENSP00000265724:T906N	T	-	2	0	ABCB1	86988097	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.829000	0.92055	2.467000	0.83353	0.655000	0.94253	ACC		PASS	0.418	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		31	12	31	12	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92763119	92763119	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:92763119T>C	ENST00000318238.4	-	5	3382	c.2166A>G	c.(2164-2166)atA>atG	p.I722M	SAMD9L_ENST00000411955.1_Missense_Mutation_p.I722M|SAMD9L_ENST00000437805.1_Missense_Mutation_p.I722M	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	722					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.I722M(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCAGCAGTGTATTAAATCTT	0.378																																						uc003umh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2164-2166)ATA>ATG		sterile alpha motif domain containing 9-like							74.0	74.0	74.0					7																	92763119		2202	4299	6501	SO:0001583	missense	219285							g.chr7:92763119T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2166A>G	7.37:g.92763119T>C	ENSP00000326247:p.Ile722Met					SAMD9L_uc003umj.1_Missense_Mutation_p.I722M|SAMD9L_uc003umi.1_Missense_Mutation_p.I722M|SAMD9L_uc010lfb.1_Missense_Mutation_p.I722M|SAMD9L_uc003umk.1_Missense_Mutation_p.I722M|SAMD9L_uc010lfc.1_Missense_Mutation_p.I722M|SAMD9L_uc010lfd.1_Missense_Mutation_p.I722M|SAMD9L_uc011khx.1_Intron	p.I722M	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3382	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		722					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.2166A>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	7.956	0.745870	0.15710	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	D;D;D	0.85088	-1.94;-1.94;-1.94	4.77	2.18	0.27775	.	0.132994	0.48286	D	0.000196	D	0.89291	0.6673	M	0.69823	2.125	0.26545	N	0.97402	D	0.76494	0.999	D	0.66979	0.948	T	0.81167	-0.1056	10	0.59425	D	0.04	-13.34	9.2803	0.37725	0.5289:0.0:0.0:0.4711	.	722	Q8IVG5	SAM9L_HUMAN	M	722	ENSP00000326247:I722M;ENSP00000405760:I722M;ENSP00000408796:I722M	ENSP00000326247:I722M	I	-	3	3	SAMD9L	92601055	0.030000	0.19436	0.279000	0.24732	0.090000	0.18270	0.311000	0.19380	0.831000	0.34780	0.383000	0.25322	ATA		PASS	0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		57	32	57	32	---	---	---	---
ZSCAN21	7589	broad.mit.edu	37	7	99654654	99654654	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:99654654G>T	ENST00000292450.4	+	2	189	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.A9S|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.A9S	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	9					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A9S(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACTAGGCATGGCCCCAGTTCT	0.527																																						uc003uso.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(25-27)GCC>TCC		zinc finger protein 38							152.0	165.0	161.0					7																	99654654		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654654G>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.25G>T	7.37:g.99654654G>T	ENSP00000292450:p.Ala9Ser					ZSCAN21_uc011kje.1_Missense_Mutation_p.A8S|ZSCAN21_uc003usn.1_Missense_Mutation_p.A8S	p.A9S	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	169	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		9					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.25G>T	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599748	0.46318	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.06449	4.1;3.3;4.1;4.11	5.43	3.59	0.41128	.	0.191196	0.25975	N	0.027116	T	0.10937	0.0267	L	0.27053	0.805	0.26084	N	0.981049	B;D	0.76494	0.037;0.999	B;D	0.69142	0.021;0.962	T	0.12734	-1.0536	10	0.30078	T	0.28	.	8.7512	0.34616	0.1842:0.0:0.8158:0.0	.	9;9	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	S	9	ENSP00000441212:A9S;ENSP00000292450:A9S;ENSP00000390960:A9S;ENSP00000404207:A9S	ENSP00000292450:A9S	A	+	1	0	ZSCAN21	99492590	0.998000	0.40836	0.999000	0.59377	0.540000	0.34992	1.197000	0.32211	1.428000	0.47296	0.655000	0.94253	GCC		PASS	0.527	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		96	34	96	34	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100364685	100364685	+	RNA	SNP	C	C	A	rs550673734		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:100364685C>A	ENST00000348028.3	+	0	4830				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1555G(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTTCGATGGCGCCTTGCACC	0.602																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4663-4665)GGC>GGA		zonadhesin isoform 3							84.0	88.0	87.0					7																	100364685		2175	4277	6452			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364685C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364685C>A						ZAN_uc003uwk.2_Silent_p.G1555G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.G132G	p.G1555G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		25	4830	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1555			Extracellular (Potential).|VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.4665C>A																																																																																					PASS	0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		34	18	34	18	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100855820	100855820	+	Silent	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:100855820C>G	ENST00000223127.3	-	9	1394	c.996G>C	c.(994-996)ctG>ctC	p.L332L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	332					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.L332L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CGTTGTTGTGCAGGAAAAGGG	0.607																																						uc003uyd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(994-996)CTG>CTC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						51.0	60.0	57.0					7																	100855820		2203	4299	6502	SO:0001819	synonymous_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100855820C>G	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.996G>C	7.37:g.100855820C>G						PLOD3_uc010lhs.2_5'UTR	p.L332L	NM_001084	NP_001075	O60568	PLOD3_HUMAN			9	1452	-	Lung NSC(181;0.168)|all_lung(186;0.215)		332					B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	c.996G>C	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	C	1.305	-0.603725	0.03717	.	.	ENSG00000106397	ENST00000541462	.	.	.	4.87	-0.814	0.10846	.	.	.	.	.	T	0.47581	0.1453	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50693	-0.8798	5	0.62326	D	0.03	-25.1222	0.9714	0.01416	0.1441:0.3343:0.2444:0.2772	.	.	.	.	P	237	.	ENSP00000442863:A237P	A	-	1	0	PLOD3	100642540	0.993000	0.37304	0.994000	0.49952	0.136000	0.21042	0.159000	0.16442	0.089000	0.17243	-0.379000	0.06801	GCA		PASS	0.607	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			20	19	20	19	---	---	---	---
FBXL13	222235	broad.mit.edu	37	7	102667932	102667932	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:102667932T>C	ENST00000313221.4	-	5	717	c.291A>G	c.(289-291)acA>acG	p.T97T	FBXL13_ENST00000379305.3_Silent_p.T97T|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000393772.2_Silent_p.T97T|FBXL13_ENST00000455112.2_Silent_p.T97T|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Silent_p.T97T|FBXL13_ENST00000436908.1_Silent_p.T97T|FBXL13_ENST00000379308.3_Silent_p.T97T|FBXL13_ENST00000379306.3_Silent_p.T97T	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	97								p.T97T(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TATGTCTTGCTGTATTCCGCC	0.318																																						uc003vaq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)ACA>ACG		F-box and leucine-rich repeat protein 13 isoform							143.0	129.0	134.0					7																	102667932		2203	4298	6501	SO:0001819	synonymous_variant	222235							g.chr7:102667932T>C	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.291A>G	7.37:g.102667932T>C						FBXL13_uc010liq.1_5'Flank|FBXL13_uc010lir.1_Silent_p.T97T|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.T97T|FBXL13_uc003vav.2_RNA	p.T97T	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			5	718	-			97					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	37	c.291A>G	CCDS5726.1																																																																																				PASS	0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		28	12	28	12	---	---	---	---
FBXL13	222235	broad.mit.edu	37	7	102669158	102669158	+	Missense_Mutation	SNP	C	C	A	rs147832645		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:102669158C>A	ENST00000313221.4	-	4	532	c.106G>T	c.(106-108)Gtc>Ttc	p.V36F	FBXL13_ENST00000379305.3_Missense_Mutation_p.V36F|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000393772.2_Missense_Mutation_p.V36F|FBXL13_ENST00000455112.2_Missense_Mutation_p.V36F|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.V36F|FBXL13_ENST00000436908.1_Missense_Mutation_p.V36F|FBXL13_ENST00000379308.3_Missense_Mutation_p.V36F|FBXL13_ENST00000379306.3_Missense_Mutation_p.V36F	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	36								p.V36F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCAGCCAGGACGACATTTTCA	0.343																																						uc003vaq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)GTC>TTC		F-box and leucine-rich repeat protein 13 isoform							100.0	91.0	94.0					7																	102669158		2203	4299	6502	SO:0001583	missense	222235							g.chr7:102669158C>A	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.106G>T	7.37:g.102669158C>A	ENSP00000321927:p.Val36Phe					FBXL13_uc010lir.1_Missense_Mutation_p.V36F|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.V36F|FBXL13_uc003vav.2_Intron	p.V36F	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			4	533	-			36					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.106G>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358207	0.24598	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	3.94	-2.96	0.05547	.	1.710430	0.03213	N	0.176408	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B;B;B	0.26708	0.082;0.065;0.157	B;B;B	0.22152	0.034;0.038;0.025	T	0.09143	-1.0688	10	0.32370	T	0.25	.	4.7978	0.13281	0.0:0.3225:0.3612:0.3163	.	36;36;36	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	F	36;36;36;36;36;36;36;36;126	ENSP00000377367:V36F;ENSP00000368610:V36F;ENSP00000368608:V36F;ENSP00000368607:V36F;ENSP00000388608:V36F;ENSP00000321927:V36F;ENSP00000409716:V36F;ENSP00000391550:V36F;ENSP00000390126:V126F	ENSP00000321927:V36F	V	-	1	0	FBXL13	102456394	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.503000	0.00965	-0.562000	0.06086	-0.384000	0.06662	GTC		PASS	0.343	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		21	14	21	14	---	---	---	---
CAV2	858	broad.mit.edu	37	7	116139935	116139935	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:116139935G>T	ENST00000222693.4	+	1	492	c.100G>T	c.(100-102)Gcg>Tcg	p.A34S	AC002066.1_ENST00000446355.2_RNA|CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Missense_Mutation_p.A34S|CAV2_ENST00000343213.2_Missense_Mutation_p.A34S	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	34					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)	p.A34S(1)		large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			CGAGAAGTTCGCGGACTCGGA	0.682																																						uc003vid.2																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)GCG>TCG		caveolin 2 isoform a and b							24.0	26.0	25.0					7																	116139935		2203	4297	6500	SO:0001583	missense	858				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	g.chr7:116139935G>T	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.100G>T	7.37:g.116139935G>T	ENSP00000222693:p.Ala34Ser					CAV2_uc003vhv.2_Intron|CAV2_uc003vhw.2_Intron|CAV2_uc003vhx.2_Intron|CAV2_uc010lkb.1_Intron|CAV2_uc010lkc.2_RNA|CAV2_uc003vib.2_Intron|CAV2_uc003vhz.2_RNA|CAV2_uc003via.2_RNA|CAV1_uc010lkd.1_Intron|CAV1_uc010lke.1_Intron|CAV2_uc003vie.2_Missense_Mutation_p.A34S	p.A34S	NM_001233	NP_001224	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		1	492	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		34			Cytoplasmic (Potential).		A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	c.100G>T	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	g	14.64	2.595422	0.46318	.	.	ENSG00000105971	ENST00000222693;ENST00000343213;ENST00000393480	D;D	0.92299	-3.01;-3.01	4.16	-2.6	0.06190	.	2.203020	0.01500	N	0.017456	D	0.83663	0.5303	L	0.31120	0.905	0.09310	N	1	B;B	0.24768	0.111;0.005	B;B	0.20184	0.028;0.007	T	0.69143	-0.5223	10	0.21540	T	0.41	-9.8402	1.1594	0.01802	0.2493:0.1156:0.1744:0.4607	.	34;34	P51636-3;P51636	.;CAV2_HUMAN	S	34	ENSP00000222693:A34S;ENSP00000377120:A34S	ENSP00000222693:A34S	A	+	1	0	CAV2	115927171	0.000000	0.05858	0.000000	0.03702	0.755000	0.42902	-0.132000	0.10467	-0.409000	0.07553	0.450000	0.29827	GCG		PASS	0.682	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		8	1	8	1	---	---	---	---
LMOD2	442721	broad.mit.edu	37	7	123302254	123302254	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:123302254A>G	ENST00000458573.2	+	2	771	c.614A>G	c.(613-615)aAg>aGg	p.K205R	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	205						cytoskeleton (GO:0005856)		p.K205R(1)									GCTTTGGACAAGATTAAAAGC	0.463																																						uc003vky.2																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)AAG>AGG		leiomodin 2 (cardiac)							73.0	71.0	72.0					7																	123302254		2054	4184	6238	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302254A>G	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.614A>G	7.37:g.123302254A>G	ENSP00000411932:p.Lys205Arg						p.K205R	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			2	771	+			205					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.614A>G	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	A	6.110	0.388606	0.11581	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.91407	-2.84	5.08	2.38	0.29361	.	.	.	.	.	T	0.76941	0.4058	N	0.12527	0.23	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.66304	-0.5957	9	0.02654	T	1	-20.13	9.7809	0.40647	0.8329:0.0:0.1671:0.0	.	205	Q6P5Q4	LMOD2_HUMAN	R	205;165;176	ENSP00000411932:K205R	ENSP00000405123:K176R	K	+	2	0	LMOD2	123089490	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	2.949000	0.49074	0.791000	0.33826	0.482000	0.46254	AAG		PASS	0.463	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			5	6	5	6	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123332787	123332787	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:123332787C>A	ENST00000223023.4	-	9	1293	c.961G>T	c.(961-963)Gca>Tca	p.A321S		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	321	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.A321S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGGAGGTGCAGCTGTGGGA	0.637																																						uc003vkz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(961-963)GCA>TCA		Wiskott-Aldrich syndrome gene-like protein							83.0	79.0	81.0					7																	123332787		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332787C>A	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.961G>T	7.37:g.123332787C>A	ENSP00000223023:p.Ala321Ser						p.A321S	NM_003941	NP_003932	O00401	WASL_HUMAN			9	1289	-			321			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.961G>T	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	9.604	1.129427	0.21041	.	.	ENSG00000106299	ENST00000223023	D	0.90900	-2.75	5.39	5.39	0.77823	.	0.054988	0.64402	D	0.000001	D	0.90909	0.7143	L	0.38838	1.175	0.80722	D	1	D	0.61697	0.99	P	0.54759	0.76	D	0.89095	0.3485	10	0.27785	T	0.31	-17.6174	19.209	0.93747	0.0:1.0:0.0:0.0	.	321	O00401	WASL_HUMAN	S	321	ENSP00000223023:A321S	ENSP00000223023:A321S	A	-	1	0	WASL	123120023	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	3.570000	0.53834	2.528000	0.85240	0.644000	0.83932	GCA		PASS	0.637	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		42	13	42	13	---	---	---	---
PAX4	5078	broad.mit.edu	37	7	127253810	127253810	+	Splice_Site	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:127253810C>T	ENST00000341640.2	-	4	743	c.538G>A	c.(538-540)Gag>Aag	p.E180K	PAX4_ENST00000378740.2_Splice_Site_p.E180K|PAX4_ENST00000463946.1_Splice_Site_p.E178K|PAX4_ENST00000338516.3_Splice_Site_p.E188K	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	188					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.E180K(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCCAGCACCTTTCTCCAGT	0.622																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)GAG>AAG		paired box 4							96.0	96.0	96.0					7																	127253810		2203	4300	6503	SO:0001630	splice_region_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253810C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.538+1G>A	7.37:g.127253810C>T						PAX4_uc003vmf.2_Missense_Mutation_p.E178K|PAX4_uc003vmg.1_Missense_Mutation_p.E180K|PAX4_uc003vmh.2_Missense_Mutation_p.E178K	p.E180K	NM_006193	NP_006184	O43316	PAX4_HUMAN			4	744	-			188			Homeobox.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.538G>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369623	0.95900	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.95690	-3.78;-3.78;-3.78	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.215613	0.38959	N	0.001512	D	0.96112	0.8733	L	0.39020	1.185	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;1.0;0.996	D;P;D;P	0.85130	0.991;0.87;0.997;0.836	D	0.95275	0.8381	9	.	.	.	.	16.8665	0.86030	0.0:1.0:0.0:0.0	.	180;178;188;178	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	K	180;188;188;178	ENSP00000339906:E180K;ENSP00000344297:E188K;ENSP00000451923:E178K	.	E	-	1	0	PAX4	127041046	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.903000	0.63272	2.661000	0.90470	0.650000	0.86243	GAG		PASS	0.622	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		Missense_Mutation	46	11	46	11	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128452222	128452222	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:128452222C>T	ENST00000297788.4	+	13	2764	c.2397C>T	c.(2395-2397)gcC>gcT	p.A799A	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	799	Ser-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A799A(2)|p.A915A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCAGTGAGGCCTATGGGAAGA	0.493																																						uc003vnv.1																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(2395-2397)GCC>GCT		coiled-coil domain containing 136							83.0	82.0	82.0					7																	128452222		2106	4227	6333	SO:0001819	synonymous_variant	64753					integral to membrane	protein binding	g.chr7:128452222C>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2397C>T	7.37:g.128452222C>T						CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.A615A|CCDC136_uc010llq.1_Silent_p.A168A|CCDC136_uc003vny.1_Silent_p.A409A	p.A799A	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			13	2764	+			799			Ser-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	c.2397C>T	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	7.269	0.606738	0.14002	.	.	ENSG00000128596	ENST00000494552	.	.	.	5.34	-4.15	0.03881	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28038	-1.0056	4	.	.	.	1.081	2.6537	0.05005	0.1314:0.2283:0.129:0.5113	.	.	.	.	L	676	.	.	P	+	2	0	CCDC136	128239458	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	0.082000	0.14847	-0.596000	0.05821	-0.140000	0.14226	CCT		PASS	0.493	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		12	10	12	10	---	---	---	---
CREB3L2	64764	broad.mit.edu	37	7	137570171	137570171	+	Missense_Mutation	SNP	G	G	A	rs148366639		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:137570171G>A	ENST00000330387.6	-	9	1472	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	CREB3L2_ENST00000456390.1_Missense_Mutation_p.T374M	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	374					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.T374M(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCCAGTCTGCGTGCCAGCTAA	0.587			T	FUS	fibromyxoid sarcoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		19910	0.0		0.0	False		,,,				2504	0.001					uc003vtw.2				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	1	Substitution - Missense(1)		lung(1)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.(1120-1122)ACG>ATG		cAMP responsive element binding protein 3-like		G	MET/THR	0,4406		0,0,2203	101.0	97.0	98.0		1121	5.6	1.0	7	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	no	missense	CREB3L2	NM_194071.2	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	374/521	137570171	3,13003	2203	4300	6503	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137570171G>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1121C>T	7.37:g.137570171G>A	ENSP00000329140:p.Thr374Met					CREB3L2_uc003vtx.1_Missense_Mutation_p.T374M|CREB3L2_uc003vtv.2_Missense_Mutation_p.T311M	p.T374M	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			9	1516	-			374			Cytoplasmic (Potential).		Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.1121C>T	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793748	0.90453	0.0	3.49E-4	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.69435	-0.06;-0.4	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.82688	0.5091	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.85130	0.858;0.997	D	0.83885	0.0281	10	0.72032	D	0.01	-16.1957	19.6125	0.95613	0.0:0.0:1.0:0.0	.	374;374	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	M	374	ENSP00000329140:T374M;ENSP00000403550:T374M	ENSP00000329140:T374M	T	-	2	0	CREB3L2	137220711	1.000000	0.71417	0.979000	0.43373	0.970000	0.65996	7.550000	0.82173	2.647000	0.89833	0.650000	0.86243	ACG		PASS	0.587	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		12	25	12	25	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140301267	140301267	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:140301267G>T	ENST00000275884.6	-	2	1348	c.931C>A	c.(931-933)Ccc>Acc	p.P311T	DENND2A_ENST00000492720.1_Missense_Mutation_p.P311T|DENND2A_ENST00000537639.1_Missense_Mutation_p.P311T|DENND2A_ENST00000496613.1_Missense_Mutation_p.P311T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	311					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P311T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					gaaggtgggggagaggagggc	0.592																																						uc010lnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(931-933)CCC>ACC		DENN/MADD domain containing 2A							45.0	49.0	48.0					7																	140301267		1978	4152	6130	SO:0001583	missense	27147							g.chr7:140301267G>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.931C>A	7.37:g.140301267G>T	ENSP00000275884:p.Pro311Thr					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.P311T|DENND2A_uc003vvw.2_Missense_Mutation_p.P311T|DENND2A_uc003vvx.2_Missense_Mutation_p.P311T	p.P311T	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	1076	-	Melanoma(164;0.00956)		311					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.931C>A	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257711	0.39896	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.12984	3.36;3.36;3.36;2.63	4.85	4.85	0.62838	.	0.068945	0.64402	D	0.000013	T	0.37839	0.1018	M	0.76574	2.34	0.58432	D	0.999997	D;B	0.76494	0.999;0.112	D;B	0.69824	0.966;0.023	T	0.07424	-1.0773	10	0.37606	T	0.19	-13.5724	18.1513	0.89675	0.0:0.0:1.0:0.0	.	311;311	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	T	311	ENSP00000275884:P311T;ENSP00000442245:P311T;ENSP00000419654:P311T;ENSP00000419464:P311T	ENSP00000275884:P311T	P	-	1	0	DENND2A	139947736	1.000000	0.71417	0.946000	0.38457	0.939000	0.58152	7.471000	0.80985	2.519000	0.84933	0.462000	0.41574	CCC		PASS	0.592	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		17	6	17	6	---	---	---	---
CLEC5A	23601	broad.mit.edu	37	7	141631620	141631620	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:141631620G>C	ENST00000546910.1	-	6	548	c.352C>G	c.(352-354)Ctt>Gtt	p.L118V	CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.L95V|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000439991.1_Missense_Mutation_p.L14V|CLEC5A_ENST00000551012.2_Missense_Mutation_p.L95V	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	118	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)	p.L118V(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATGTCCTGAAGAAACTTCTGG	0.373																																					GBM(154;1592 2613 3360 42983)	uc003vwv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)CTT>GTT		C-type lectin, superfamily member 5							104.0	100.0	102.0					7																	141631620		2203	4300	6503	SO:0001583	missense	23601				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	g.chr7:141631620G>C		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.352C>G	7.37:g.141631620G>C	ENSP00000449999:p.Leu118Val					CLEC5A_uc011krm.1_Missense_Mutation_p.L95V|CLEC5A_uc003vww.1_Missense_Mutation_p.L117V|CLEC5A_uc010lnq.1_Missense_Mutation_p.L95V|CLEC5A_uc010lnr.1_RNA	p.L118V	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN			6	549	-	Melanoma(164;0.0171)		118			C-type lectin.|Extracellular (Potential).		Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	c.352C>G	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611358	0.14066	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000439991;ENST00000438351	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.07	5.07	0.68467	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.126876	0.36444	N	0.002591	T	0.40322	0.1112	L	0.55017	1.72	0.41129	D	0.985873	D;P;P;P	0.76494	0.999;0.929;0.955;0.699	D;B;P;B	0.87578	0.998;0.435;0.604;0.387	T	0.02766	-1.1113	10	0.36615	T	0.2	-17.1497	14.1385	0.65303	0.0:0.0:1.0:0.0	.	95;95;117;118	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	V	118;95;14;95	ENSP00000449999:L118V;ENSP00000446890:L95V;ENSP00000395258:L14V;ENSP00000414897:L95V	ENSP00000265306:L118V	L	-	1	0	CLEC5A	141278089	1.000000	0.71417	0.918000	0.36340	0.119000	0.20118	3.975000	0.56859	2.789000	0.95967	0.655000	0.94253	CTT		PASS	0.373	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		27	8	27	8	---	---	---	---
TRBV2	28620	broad.mit.edu	37	7	142000841	142000841	+	RNA	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:142000841C>A	ENST00000455382.2	+	0	95									T cell receptor beta variable 2																		GGCTCGTATGCTGGGCAATTT	0.458																																						uc011kro.1																			0											c.(19-21)TGC>TGA		SubName: Full=V_segment translation product; Flags: Fragment;							139.0	130.0	133.0					7																	142000841		1940	4149	6089			0							g.chr7:142000841C>A	L36092		7q34	2012-02-07			ENSG00000226660	ENSG00000226660		"""T cell receptors / TRB locus"""	12195	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV22S1A2N1T, TCRBV2S1			OTTHUMG00000158532		7.37:g.142000841C>A							p.C7*							1	66	+									Nonsense_Mutation	SNP	ENST00000455382.2	37	c.21C>A																																																																																					PASS	0.458	TRBV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351238.2	NG_001333		40	17	40	17	---	---	---	---
TAS2R39	259285	broad.mit.edu	37	7	142881460	142881460	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:142881460G>T	ENST00000446620.1	+	1	949	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	317					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.G317W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGATAACCCTGGGCTGAGAAG	0.498																																						uc011ksw.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(949-951)GGG>TGG		taste receptor, type 2, member 39							53.0	47.0	49.0					7																	142881460		1888	4121	6009	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142881460G>T	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.949G>T	7.37:g.142881460G>T	ENSP00000405095:p.Gly317Trp						p.G317W	NM_176881	NP_795362	P59534	T2R39_HUMAN			1	949	+	Melanoma(164;0.059)		317			Cytoplasmic (Potential).		A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.949G>T	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608045	0.28623	.	.	ENSG00000236398	ENST00000446620	T	0.00745	5.75	4.8	2.99	0.34606	.	.	.	.	.	T	0.02848	0.0085	M	0.70595	2.14	0.24848	N	0.992424	D	0.89917	1.0	D	0.91635	0.999	T	0.43798	-0.9369	9	0.66056	D	0.02	.	3.5015	0.07674	0.2605:0.2097:0.5298:0.0	.	317	P59534	T2R39_HUMAN	W	317	ENSP00000405095:G317W	ENSP00000405095:G317W	G	+	1	0	TAS2R39	142591582	0.904000	0.30761	0.958000	0.39756	0.076000	0.17211	0.590000	0.23954	1.399000	0.46721	0.650000	0.86243	GGG		PASS	0.498	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		12	2	12	2	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143039500	143039500	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:143039500G>A	ENST00000343257.2	+	16	1919	c.1832G>A	c.(1831-1833)cGt>cAt	p.R611H		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	611	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.R611H(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATCATGGTACGTGATGTGAAG	0.468																																						uc003wcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1831-1833)CGT>CAT		chloride channel 1, skeletal muscle							171.0	132.0	145.0					7																	143039500		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143039500G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1832G>A	7.37:g.143039500G>A	ENSP00000339867:p.Arg611His					CLCN1_uc011ktc.1_Missense_Mutation_p.R223H	p.R611H	NM_000083	NP_000074	P35523	CLCN1_HUMAN			16	1919	+	Melanoma(164;0.205)		611			CBS 1.|Cytoplasmic (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1832G>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984541	0.93044	.	.	ENSG00000188037	ENST00000343257	D	0.81499	-1.5	5.82	5.82	0.92795	Cystathionine beta-synthase, core (2);	0.055729	0.64402	D	0.000002	D	0.88636	0.6490	M	0.79258	2.445	0.51767	D	0.999938	D	0.89917	1.0	D	0.69654	0.965	D	0.88493	0.3077	10	0.51188	T	0.08	.	13.7334	0.62802	0.079:0.0:0.9209:0.0	.	611	P35523	CLCN1_HUMAN	H	611	ENSP00000339867:R611H	ENSP00000339867:R611H	R	+	2	0	CLCN1	142749622	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.641000	0.67881	2.756000	0.94617	0.643000	0.83706	CGT		PASS	0.468	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		8	15	8	15	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147914586	147914586	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:147914586G>T	ENST00000361727.3	+	19	3733	c.3217G>T	c.(3217-3219)Gac>Tac	p.D1073Y	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D132Y	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1073	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D1073Y(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTCACCACAGACTTCTTGGC	0.537										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3217-3219)GAC>TAC		cell recognition molecule Caspr2 precursor							102.0	89.0	94.0					7																	147914586		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914586G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3217G>T	7.37:g.147914586G>T	ENSP00000354778:p.Asp1073Tyr	HNSCC(39;0.1)					p.D1073Y	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3733	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1073			Laminin G-like 4.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3217G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293686	0.80914	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;D	0.84370	-1.84;-1.84	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.91300	0.7257	M	0.85859	2.78	0.58432	D	0.999997	P	0.46706	0.883	P	0.53102	0.718	D	0.92729	0.6198	10	0.87932	D	0	.	17.4392	0.87561	0.0:0.0:1.0:0.0	.	1073	Q9UHC6	CNTP2_HUMAN	Y	1073;132	ENSP00000354778:D1073Y;ENSP00000440732:D132Y	ENSP00000354778:D1073Y	D	+	1	0	CNTNAP2	147545519	1.000000	0.71417	0.963000	0.40424	0.989000	0.77384	8.522000	0.90573	2.438000	0.82558	0.561000	0.74099	GAC		PASS	0.537	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			43	20	43	20	---	---	---	---
ZNF862	643641	broad.mit.edu	37	7	149545084	149545084	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:149545084C>T	ENST00000223210.4	+	4	747	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P168S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCGAGAATACCCCTCCATCAG	0.517																																						uc010lpn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(502-504)CCC>TCC		zinc finger protein 862							50.0	49.0	49.0					7																	149545084		2038	4198	6236	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545084C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.502C>T	7.37:g.149545084C>T	ENSP00000223210:p.Pro168Ser					ZNF862_uc003wgm.2_RNA	p.P168S	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			4	694	+			168			TTF-type 1.		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.502C>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776837	0.31411	.	.	ENSG00000106479	ENST00000223210;ENST00000460379	T	0.01119	5.31	5.28	3.45	0.39498	Zinc finger, TTF-type (1);	0.246545	0.28821	N	0.014021	T	0.01387	0.0045	L	0.43152	1.355	0.25863	N	0.983791	B	0.14805	0.011	B	0.11329	0.006	T	0.42378	-0.9455	10	0.44086	T	0.13	-15.6012	8.6788	0.34196	0.0:0.821:0.0:0.179	.	168	O60290	ZN862_HUMAN	S	168;84	ENSP00000223210:P168S	ENSP00000223210:P168S	P	+	1	0	ZNF862	149176017	0.830000	0.29337	0.667000	0.29798	0.048000	0.14542	0.544000	0.23253	0.599000	0.29845	0.655000	0.94253	CCC		PASS	0.517	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		3	3	3	3	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10467053	10467053	+	Missense_Mutation	SNP	C	C	T	rs550579738		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:10467053C>T	ENST00000382483.3	-	4	4778	c.4555G>A	c.(4555-4557)Gtg>Atg	p.V1519M		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1599					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.V1519M(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AACACGGACACCCAGATGGGG	0.652																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4555-4557)GTG>ATG		retinitis pigmentosa 1-like 1							39.0	45.0	43.0					8																	10467053		2074	4200	6274	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467053C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4555G>A	8.37:g.10467053C>T	ENSP00000371923:p.Val1519Met						p.V1519M	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4784	-			1519					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4555G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820303	0.50633	.	.	ENSG00000183638	ENST00000382483	T	0.19669	2.13	5.32	5.32	0.75619	.	0.000000	0.30714	U	0.009021	T	0.37972	0.1023	L	0.34521	1.04	0.41707	D	0.989432	D	0.89917	1.0	D	0.83275	0.996	T	0.16958	-1.0385	10	0.66056	D	0.02	-23.2545	17.9814	0.89143	0.0:1.0:0.0:0.0	.	1519	A6NKC6	.	M	1519	ENSP00000371923:V1519M	ENSP00000371923:V1519M	V	-	1	0	RP1L1	10504463	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	5.486000	0.66856	2.495000	0.84180	0.491000	0.48974	GTG		PASS	0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			19	40	19	40	---	---	---	---
NPM2	10361	broad.mit.edu	37	8	21882972	21882972	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:21882972G>T	ENST00000397940.1	+	3	1099	c.84G>T	c.(82-84)cgG>cgT	p.R28R	NPM2_ENST00000520180.1_3'UTR|NPM2_ENST00000521157.1_Silent_p.R28R|NPM2_ENST00000381530.5_Silent_p.R28R|NPM2_ENST00000289820.6_Silent_p.R28R|NPM2_ENST00000518119.1_Silent_p.R28R			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	28					chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)	p.R28R(2)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AGGAGAGGCGGACTTGGACCT	0.622																																						uc003xab.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(82-84)CGG>CGT		nucleoplasmin 2							71.0	71.0	71.0					8																	21882972		2203	4300	6503	SO:0001819	synonymous_variant	10361				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding	g.chr8:21882972G>T	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.84G>T	8.37:g.21882972G>T						NPM2_uc003xac.2_Silent_p.R28R|NPM2_uc003xad.2_Silent_p.R28R|NPM2_uc003xae.2_Silent_p.R28R|NPM2_uc003xaf.2_Silent_p.R28R	p.R28R	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	3	742	+			28					B3KSU0|D3DSQ8|Q6NVH6	Silent	SNP	ENST00000397940.1	37	c.84G>T	CCDS6018.1																																																																																				PASS	0.622	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253810.2	NM_182795		13	11	13	11	---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22162343	22162343	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:22162343A>G	ENST00000454009.2	+	12	1926	c.1417A>G	c.(1417-1419)Att>Gtt	p.I473V	PIWIL2_ENST00000356766.6_Missense_Mutation_p.I473V|PIWIL2_ENST00000521356.1_Missense_Mutation_p.I473V	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	473	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.I473V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCCATTGCTGATTCACAGGCC	0.443																																						uc003xbn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1417-1419)ATT>GTT		piwi-like 2							140.0	117.0	125.0					8																	22162343		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22162343A>G	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1417A>G	8.37:g.22162343A>G	ENSP00000406956:p.Ile473Val					PIWIL2_uc011kzf.1_Missense_Mutation_p.I473V|PIWIL2_uc010ltv.2_Missense_Mutation_p.I473V	p.I473V	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	12	1565	+			473			PAZ.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1417A>G	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	A	5.830	0.337428	0.11013	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.08720	3.06;3.06;3.06	5.23	5.23	0.72850	Argonaute/Dicer protein, PAZ (4);	0.165528	0.53938	D	0.000058	T	0.04452	0.0122	N	0.12663	0.25	0.43058	D	0.994677	B;B	0.16603	0.005;0.018	B;B	0.24394	0.053;0.053	T	0.19910	-1.0291	10	0.02654	T	1	-30.1883	10.5664	0.45175	0.8383:0.1617:0.0:0.0	.	473;473	E7ECA4;Q8TC59	.;PIWL2_HUMAN	V	473	ENSP00000349208:I473V;ENSP00000428267:I473V;ENSP00000406956:I473V	ENSP00000349208:I473V	I	+	1	0	PIWIL2	22218288	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	1.736000	0.38187	2.104000	0.64026	0.528000	0.53228	ATT		PASS	0.443	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			20	5	20	5	---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28413259	28413259	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:28413259G>T	ENST00000240093.3	+	7	2036	c.1558G>T	c.(1558-1560)Gtg>Ttg	p.V520L	FZD3_ENST00000537916.1_Missense_Mutation_p.V520L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	520					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V520L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GTCTAGGATAGTGAATGAGAG	0.383																																						uc003xgx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1558-1560)GTG>TTG		frizzled 3 precursor							95.0	95.0	95.0					8																	28413259		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28413259G>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1558G>T	8.37:g.28413259G>T	ENSP00000240093:p.Val520Leu					FZD3_uc010lvb.2_Missense_Mutation_p.V520L	p.V520L	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	7	2036	+		Ovarian(32;2.06e-05)	520			Cytoplasmic (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.1558G>T	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061962	0.55432	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.77877	-1.13;-1.13	5.41	5.41	0.78517	.	0.133612	0.50627	D	0.000114	T	0.70876	0.3274	L	0.32530	0.975	0.58432	D	0.999999	B	0.29988	0.264	B	0.28011	0.085	T	0.70436	-0.4872	10	0.54805	T	0.06	.	18.1689	0.89737	0.0:0.0:1.0:0.0	.	520	Q9NPG1	FZD3_HUMAN	L	520	ENSP00000437489:V520L;ENSP00000240093:V520L	ENSP00000240093:V520L	V	+	1	0	FZD3	28469178	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	9.447000	0.97595	2.512000	0.84698	0.585000	0.79938	GTG		PASS	0.383	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		44	14	44	14	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30702240	30702240	+	Missense_Mutation	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:30702240T>G	ENST00000256246.2	-	1	4368	c.4294A>C	c.(4294-4296)Agt>Cgt	p.S1432R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1432					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1432R(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAACTATCACTGGAAGATAAT	0.348																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(4294-4296)AGT>CGT		testis expressed 15							80.0	77.0	78.0					8																	30702240		2203	4298	6501	SO:0001583	missense	56154							g.chr8:30702240T>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4294A>C	8.37:g.30702240T>G	ENSP00000256246:p.Ser1432Arg						p.S1432R	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4294	-			1432						Missense_Mutation	SNP	ENST00000256246.2	37	c.4294A>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	9.804	1.181306	0.21787	.	.	ENSG00000133863	ENST00000256246	T	0.12361	2.69	5.8	0.566	0.17317	.	1.126930	0.06488	N	0.734053	T	0.11239	0.0274	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.39121	-0.9629	10	0.87932	D	0	.	5.2713	0.15627	0.0:0.1582:0.3148:0.5269	.	1432	Q9BXT5	TEX15_HUMAN	R	1432	ENSP00000256246:S1432R	ENSP00000256246:S1432R	S	-	1	0	TEX15	30821782	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.437000	0.21543	-0.124000	0.11724	-0.256000	0.11100	AGT		PASS	0.348	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			51	14	51	14	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32621881	32621881	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:32621881G>T	ENST00000405005.3	+	12	1884	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L	NRG1_ENST00000519301.1_Silent_p.L578L|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000539990.1_Silent_p.L471L|NRG1_ENST00000356819.4_Silent_p.L633L|NRG1_ENST00000287842.3_Silent_p.L625L|NRG1_ENST00000338921.4_Silent_p.L636L|NRG1_ENST00000287845.5_Silent_p.L599L|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	628					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.L633L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGGCCAGGCTGTCTAGTGTAA	0.448																																						uc003xiv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1882-1884)CTG>CTT		neuregulin 1 isoform HRG-alpha							38.0	42.0	40.0					8																	32621881		2202	4300	6502	SO:0001819	synonymous_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621881G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1884G>T	8.37:g.32621881G>T						NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.L633L|NRG1_uc003xiw.2_Silent_p.L625L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.L370L|NRG1_uc010lvs.2_Silent_p.L370L|NRG1_uc010lvp.2_Silent_p.L582L|NRG1_uc010lvq.2_Silent_p.L565L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.L471L|NRG1_uc003xja.2_Silent_p.L439L	p.L628L	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	12	2401	+		Breast(100;0.203)	628			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.1884G>T	CCDS6085.1																																																																																				PASS	0.448	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			20	2	20	2	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35579850	35579850	+	Missense_Mutation	SNP	G	G	T	rs149536132		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:35579850G>T	ENST00000404895.2	+	9	1568	c.1240G>T	c.(1240-1242)Gtc>Ttc	p.V414F	UNC5D_ENST00000453357.2_Missense_Mutation_p.V409F|UNC5D_ENST00000416672.1_Missense_Mutation_p.V419F|UNC5D_ENST00000287272.2_Missense_Mutation_p.V358F|UNC5D_ENST00000420357.1_Missense_Mutation_p.V347F|UNC5D_ENST00000449677.1_5'Flank	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	414					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.V409F(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGCGTGGACGTCATTGACTC	0.557																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1240-1242)GTC>TTC		unc-5 homolog D precursor							264.0	222.0	237.0					8																	35579850		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579850G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1240G>T	8.37:g.35579850G>T	ENSP00000385143:p.Val414Phe					UNC5D_uc003xjs.1_Missense_Mutation_p.V409F|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.V172F	p.V414F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1568	+			414			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1240G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634291	0.87660	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.56275	0.5;0.88;0.86;0.49;0.47	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	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	0.998;0.999;0.998	T	0.75357	-0.3346	10	0.87932	D	0	-27.0347	19.4428	0.94827	0.0:0.0:1.0:0.0	.	419;409;414	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	F	414;347;358;419;409	ENSP00000385143:V414F;ENSP00000392739:V347F;ENSP00000287272:V358F;ENSP00000412652:V419F;ENSP00000394303:V409F	ENSP00000287272:V358F	V	+	1	0	UNC5D	35699392	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.625000	0.83145	2.694000	0.91930	0.650000	0.86243	GTC		PASS	0.557	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			102	30	102	30	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36663799	36663799	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:36663799G>T	ENST00000399881.3	+	5	518	c.481G>T	c.(481-483)Gat>Tat	p.D161Y		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	161					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.D161Y(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TATGGCAGCTGATGACAAGAT	0.353																																						uc010lvw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(481-483)GAT>TAT		potassium channel, subfamily U, member 1							80.0	78.0	79.0					8																	36663799		1856	4104	5960	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36663799G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.481G>T	8.37:g.36663799G>T	ENSP00000382770:p.Asp161Tyr					KCNU1_uc003xjw.2_RNA	p.D161Y	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	5	568	+			161			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.481G>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144393	0.57044	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.54071	0.59;0.59	5.57	4.7	0.59300	Ion transport (1);	0.182425	0.33670	U	0.004672	T	0.56863	0.2014	L	0.28400	0.85	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.59920	-0.7363	10	0.87932	D	0	-4.7556	7.6775	0.28494	0.2459:0.0:0.7541:0.0	.	161	A8MYU2	KCNU1_HUMAN	Y	161	ENSP00000429951:D161Y;ENSP00000382770:D161Y	ENSP00000382770:D161Y	D	+	1	0	KCNU1	36782957	0.996000	0.38824	1.000000	0.80357	0.843000	0.47879	2.901000	0.48695	1.358000	0.45922	-0.262000	0.10625	GAT		PASS	0.353	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		11	3	11	3	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48809844	48809844	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:48809844G>A	ENST00000314191.2	-	30	3531	c.3475C>T	c.(3475-3477)Cct>Tct	p.P1159S	PRKDC_ENST00000338368.3_Missense_Mutation_p.P1159S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1159					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.P1159S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATGCGGAAGGTGGAAATCCT	0.433								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(3475-3477)CCT>TCT	NHEJ	protein kinase, DNA-activated, catalytic							196.0	186.0	189.0					8																	48809844		1920	4143	6063	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48809844G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3475C>T	8.37:g.48809844G>A	ENSP00000313420:p.Pro1159Ser					PRKDC_uc003xqj.2_Missense_Mutation_p.P1159S|PRKDC_uc011ldh.1_Intron	p.P1159S	NM_006904	NP_008835	P78527	PRKDC_HUMAN			30	3532	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1159					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3475C>T		.	.	.	.	.	.	.	.	.	.	G	3.414	-0.119496	0.06838	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02369	4.38;4.32	5.7	2.75	0.32379	Armadillo-like helical (1);Armadillo-type fold (1);	0.293156	0.32640	N	0.005839	T	0.01940	0.0061	.	.	.	0.09310	N	1	B;B	0.14012	0.009;0.004	B;B	0.09377	0.004;0.002	T	0.45145	-0.9281	9	0.33940	T	0.23	.	3.6341	0.08142	0.1437:0.2595:0.4763:0.1206	.	1159;1159	E7EUY0;P78527	.;PRKDC_HUMAN	S	1159	ENSP00000313420:P1159S;ENSP00000345182:P1159S	ENSP00000313420:P1159S	P	-	1	0	PRKDC	48972397	0.028000	0.19301	0.067000	0.19924	0.025000	0.11179	0.130000	0.15850	0.746000	0.32786	0.563000	0.77884	CCT		PASS	0.433	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		64	53	64	53	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52322090	52322090	+	Silent	SNP	G	G	C	rs577366502		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:52322090G>C	ENST00000356297.4	-	17	2194	c.2094C>G	c.(2092-2094)cgC>cgG	p.R698R	PXDNL_ENST00000543296.1_Silent_p.R698R	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	698					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.R698R(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)				GGCTGAGGGAGCGCGGGGACA	0.617																																						uc003xqu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2092-2094)CGC>CGG		peroxidasin homolog-like precursor							31.0	35.0	34.0					8																	52322090		2111	4231	6342	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52322090G>C		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.2094C>G	8.37:g.52322090G>C						PXDNL_uc003xqt.3_RNA	p.R698R	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2195	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	698					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2094C>G	CCDS47855.1																																																																																				PASS	0.617	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		5	25	5	25	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53079509	53079509	+	Silent	SNP	C	C	T	rs139354986	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:53079509C>T	ENST00000276480.7	-	11	1790	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	369					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P369P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATCCAGGGATCGGGCACTTGG	0.522													C|||	4	0.000798722	0.003	0.0	5008	,	,		17777	0.0		0.0	False		,,,				2504	0.0					uc003xqz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1105-1107)CCG>CCA		suppression of tumorigenicity 18		C		15,4391	22.3+/-47.3	0,15,2188	135.0	140.0	138.0		1107	1.8	1.0	8	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous	ST18	NM_014682.2		0,15,6488	TT,TC,CC		0.0,0.3404,0.1153		369/1048	53079509	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079509C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1107G>A	8.37:g.53079509C>T						ST18_uc011ldq.1_Silent_p.P16P|ST18_uc011ldr.1_Silent_p.P334P|ST18_uc011lds.1_Silent_p.P274P|ST18_uc003xra.2_Silent_p.P369P|ST18_uc003xrb.2_Silent_p.P369P	p.P369P	NM_014682	NP_055497	O60284	ST18_HUMAN			6	1263	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	369			C2HC-type 1.		Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1107G>A	CCDS6149.1																																																																																				PASS	0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			23	94	23	94	---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57079512	57079512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:57079512C>A	ENST00000316981.3	-	5	1272	c.793G>T	c.(793-795)Gag>Tag	p.E265*	PLAG1_ENST00000429357.2_Nonsense_Mutation_p.E265*|PLAG1_ENST00000423799.2_Nonsense_Mutation_p.E183*	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	265	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E265*(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GGAAGGAGCTCGTCTTTTATA	0.423			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	uc003xsq.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	TCEA1|LIFR|CTNNB1|CHCHD7		salivary adenoma	CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	2	Substitution - Nonsense(2)		lung(2)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129						c.(793-795)GAG>TAG		pleiomorphic adenoma gene 1 isoform b							208.0	201.0	203.0					8																	57079512		2203	4300	6503	SO:0001587	stop_gained	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079512C>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.793G>T	8.37:g.57079512C>A	ENSP00000325546:p.Glu265*					PLAG1_uc003xsr.3_Nonsense_Mutation_p.E265*|PLAG1_uc010lyi.2_Nonsense_Mutation_p.E265*|PLAG1_uc010lyj.2_Nonsense_Mutation_p.E183*	p.E265*	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		3	1244	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	265			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.		B4DLC2|Q59GH8|Q9Y4L2	Nonsense_Mutation	SNP	ENST00000316981.3	37	c.793G>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546951	0.96488	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-27.9336	20.3397	0.98756	0.0:1.0:0.0:0.0	.	.	.	.	X	265;183;265	.	ENSP00000325546:E265X	E	-	1	0	PLAG1	57242066	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.398000	0.79919	2.803000	0.96430	0.585000	0.79938	GAG		PASS	0.423	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		59	150	59	150	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61749490	61749490	+	Silent	SNP	A	A	T	rs199842064		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:61749490A>T	ENST00000423902.2	+	17	4583	c.4104A>T	c.(4102-4104)gcA>gcT	p.A1368A	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1368	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.A1368A(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTACAAGGGCAGGAGGTTTAG	0.488																																						uc003xue.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4102-4104)GCA>GCT		chromodomain helicase DNA binding protein 7							143.0	143.0	143.0					8																	61749490		2100	4256	6356	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61749490A>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4104A>T	8.37:g.61749490A>T							p.A1368A	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		17	4581	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1368			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.4104A>T	CCDS47865.1																																																																																				PASS	0.488	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		42	115	42	115	---	---	---	---
SGK3	23678	broad.mit.edu	37	8	67743512	67743512	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:67743512T>C	ENST00000396596.1	+	8	705	c.491T>C	c.(490-492)tTc>tCc	p.F164S	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.F164S|SGK3_ENST00000521198.2_Missense_Mutation_p.F164S|SGK3_ENST00000522398.1_Missense_Mutation_p.F164S|SGK3_ENST00000520976.1_Missense_Mutation_p.F164S|SGK3_ENST00000345714.4_Missense_Mutation_p.F164S	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.F164S(1)|p.F97S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GACTTTGATTTCTTAAAAGTT	0.333																																						uc003xwr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|lung(1)|breast(1)	4						c.(490-492)TTC>TCC		serum/glucocorticoid regulated kinase 3 isoform							144.0	150.0	148.0					8																	67743512		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67743512T>C		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.491T>C	8.37:g.67743512T>C	ENSP00000379842:p.Phe164Ser					SGK3_uc003xwp.2_Missense_Mutation_p.F158S|SGK3_uc003xwt.2_Missense_Mutation_p.F164S|SGK3_uc003xwu.2_Missense_Mutation_p.F164S	p.F164S	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		8	790	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	164			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.491T>C	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431266	0.83776	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000521960;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396	T;T;T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13;3.13;3.13	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	L	0.48260	1.515	0.47037	D	0.999293	D;D	0.56746	0.974;0.977	P;P	0.60473	0.875;0.847	T	0.13899	-1.0492	9	0.87932	D	0	.	10.5913	0.45310	0.1438:0.0:0.0:0.8562	.	164;164	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	S	164;164;164;97;164;164;164;164;46	ENSP00000429022:F164S;ENSP00000430463:F164S;ENSP00000430256:F164S;ENSP00000430691:F164S;ENSP00000379842:F164S;ENSP00000331816:F164S;ENSP00000428529:F46S	ENSP00000262211:F164S	F	+	2	0	SGK3	67906066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.342000	0.52159	2.027000	0.59764	0.460000	0.39030	TTC		PASS	0.333	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			3	153	3	153	---	---	---	---
CPA6	57094	broad.mit.edu	37	8	68430214	68430214	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:68430214G>T	ENST00000297770.4	-	3	476	c.261C>A	c.(259-261)ccC>ccA	p.P87P	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.P87P	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	87						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.P87P(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AACCATTTTGGGGGATATGGA	0.433																																						uc003xxq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(259-261)CCC>CCA		carboxypeptidase A6 isoform 1 precursor							135.0	126.0	129.0					8																	68430214		2203	4300	6503	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68430214G>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.261C>A	8.37:g.68430214G>T						CPA6_uc003xxr.3_Intron|CPA6_uc003xxs.2_Silent_p.P87P	p.P87P	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		3	517	-			87					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.261C>A	CCDS6200.1																																																																																				PASS	0.433	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		24	68	24	68	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68984805	68984805	+	Splice_Site	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:68984805G>A	ENST00000288368.4	+	14	1846	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	523	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.Q523Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TAATTGCACAGGTAAATAGAC	0.348																																						uc003xxv.1																			2	Substitution - coding silent(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(1567-1569)CAG>CAA		DEP domain containing 2 isoform a							109.0	117.0	114.0					8																	68984805		2203	4300	6503	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68984805G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1569+1G>A	8.37:g.68984805G>A						PREX2_uc003xxu.1_Silent_p.Q523Q|PREX2_uc011lez.1_Silent_p.Q458Q	p.Q523Q	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			14	1596	+			523			DEP 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.1569G>A	CCDS6201.1																																																																																				PASS	0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Silent	20	51	20	51	---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70981441	70981441	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:70981441G>A	ENST00000276594.2	-	2	856	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	219					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.L219L(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCATGGTGCAGGCTGGCTGGG	0.597																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(655-657)CTG>TTG		PR domain containing 14							77.0	81.0	80.0					8																	70981441		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981441G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.655C>T	8.37:g.70981441G>A							p.L219L	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	857	-	Breast(64;0.193)		219					Q86UX9	Silent	SNP	ENST00000276594.2	37	c.655C>T	CCDS6206.1																																																																																				PASS	0.597	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			26	53	26	53	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81599491	81599491	+	Silent	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:81599491G>C	ENST00000327835.3	-	4	759	c.528C>G	c.(526-528)ctC>ctG	p.L176L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	176							metal ion binding (GO:0046872)	p.L176L(1)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GCTCGTCGAAGAGCAGGTTGC	0.637											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yby.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(526-528)CTC>CTG		zinc finger protein 704							54.0	52.0	53.0					8																	81599491		2166	4257	6423	SO:0001819	synonymous_variant	619279					intracellular	zinc ion binding	g.chr8:81599491G>C	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.528C>G	8.37:g.81599491G>C			OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207		p.L176L	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		4	760	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		176					B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	c.528C>G	CCDS34913.1																																																																																				PASS	0.637	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		15	66	15	66	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885208	88885208	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:88885208G>A	ENST00000319675.3	-	1	1088	c.992C>T	c.(991-993)gCc>gTc	p.A331V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	331								p.A331V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTGGCCCACGGCCGCCACGAC	0.567																																						uc003ydz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(991-993)GCC>GTC		WD repeat domain 21C							77.0	81.0	80.0					8																	88885208		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885208G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.992C>T	8.37:g.88885208G>A	ENSP00000316496:p.Ala331Val						p.A331V	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1089	-			331			WD 2.			Missense_Mutation	SNP	ENST00000319675.3	37	c.992C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712041	0.68730	.	.	ENSG00000176566	ENST00000319675	T	0.69306	-0.39	1.39	0.342	0.15996	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	0.67287	0.2877	M	0.83953	2.67	0.34797	D	0.736315	P	0.47545	0.897	P	0.46389	0.515	T	0.70781	-0.4779	10	0.72032	D	0.01	.	5.2186	0.15356	0.0:0.3721:0.6279:0.0	.	331	Q8NA75	DC4L2_HUMAN	V	331	ENSP00000316496:A331V	ENSP00000316496:A331V	A	-	2	0	DCAF4L2	88954324	1.000000	0.71417	0.189000	0.23252	0.402000	0.30811	5.562000	0.67346	-0.111000	0.12001	0.467000	0.42956	GCC		PASS	0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		23	38	23	38	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128908	89128908	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:89128908G>A	ENST00000286614.6	-	6	1192	c.911C>T	c.(910-912)cCg>cTg	p.P304L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	304					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P304L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGGCACTGTCGGTAGAGGTCT	0.517																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(910-912)CCG>CTG		matrix metalloproteinase 16 isoform 1							198.0	205.0	203.0					8																	89128908		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128908G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.911C>T	8.37:g.89128908G>A	ENSP00000286614:p.Pro304Leu					MMP16_uc003yec.2_Missense_Mutation_p.P304L	p.P304L	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1193	-			304			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.911C>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689527	0.68271	.	.	ENSG00000156103	ENST00000286614	T	0.18502	2.21	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	M	0.76574	2.34	0.80722	D	1	P;B	0.46912	0.886;0.055	P;B	0.49047	0.599;0.03	T	0.05954	-1.0854	10	0.66056	D	0.02	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	304;304	P51512-2;P51512	.;MMP16_HUMAN	L	304	ENSP00000286614:P304L	ENSP00000286614:P304L	P	-	2	0	MMP16	89198024	1.000000	0.71417	0.896000	0.35187	0.993000	0.82548	8.004000	0.88535	2.753000	0.94483	0.557000	0.71058	CCG		PASS	0.517	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		19	87	19	87	---	---	---	---
CDH17	1015	broad.mit.edu	37	8	95186446	95186446	+	Missense_Mutation	SNP	G	G	T	rs376397791		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:95186446G>T	ENST00000027335.3	-	6	591	c.467C>A	c.(466-468)cCg>cAg	p.P156Q	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.P156Q	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	156	Cadherin 2. {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.P156Q(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)			GGGAGTGGCCGGATCATCCAG	0.413																																						uc003ygh.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(466-468)CCG>CAG		cadherin 17 precursor							159.0	162.0	161.0					8																	95186446		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95186446G>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.467C>A	8.37:g.95186446G>T	ENSP00000027335:p.Pro156Gln					CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.P156Q	p.P156Q	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		6	592	-	Breast(36;4.65e-06)		156			Extracellular (Potential).|Cadherin 2.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.467C>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554384	0.86231	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.20598	2.06;2.06	5.96	5.96	0.96718	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000031	T	0.54902	0.1887	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.59595	-0.7425	10	0.87932	D	0	-14.1027	19.1934	0.93677	0.0:0.0:1.0:0.0	.	156	Q12864	CAD17_HUMAN	Q	156	ENSP00000027335:P156Q;ENSP00000401468:P156Q	ENSP00000027335:P156Q	P	-	2	0	CDH17	95255622	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.631000	0.74277	2.832000	0.97577	0.655000	0.94253	CCG		PASS	0.413	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		46	104	46	104	---	---	---	---
MATN2	4147	broad.mit.edu	37	8	99045299	99045299	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:99045299G>T	ENST00000520016.1	+	16	2735	c.2611G>T	c.(2611-2613)Gac>Tac	p.D871Y	MATN2_ENST00000524308.1_Missense_Mutation_p.D830Y|MATN2_ENST00000522025.2_Missense_Mutation_p.D587Y|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.D871Y|MATN2_ENST00000521689.1_Intron			O00339	MATN2_HUMAN	matrilin 2	871						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.D871Y(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AAATATCCAAGACCTACTTTC	0.378																																						uc003yic.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2611-2613)GAC>TAC		matrilin 2 isoform a precursor							97.0	83.0	87.0					8																	99045299		1837	4082	5919	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99045299G>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2611G>T	8.37:g.99045299G>T	ENSP00000430487:p.Asp871Tyr					MATN2_uc010mbh.1_Missense_Mutation_p.D830Y|MATN2_uc003yid.2_Intron|MATN2_uc003yie.1_Missense_Mutation_p.D871Y|MATN2_uc010mbi.1_Intron|MATN2_uc010mbj.1_Missense_Mutation_p.D232Y|RPL30_uc010mbk.1_Intron	p.D871Y	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		17	2842	+	Breast(36;1.43e-06)		871					A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.2611G>T	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.139136|4.139136	0.77775|0.77775	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000522135	T;D;D;T|.	0.83591|.	-0.86;-1.74;-1.67;-0.82|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.086033|.	0.49916|.	D|.	0.000128|.	T|T	0.56775|0.56775	0.2008|0.2008	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	P;D|.	0.63488|.	0.879;0.915|.	T|T	0.50215|0.50215	-0.8854|-0.8854	10|5	0.54805|.	T|.	0.06|.	-35.0484|-35.0484	18.1565|18.1565	0.89693|0.89693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	830;871|.	C9JH87;O00339|.	.;MATN2_HUMAN|.	Y|N	871;830;830;587;871|33	ENSP00000254898:D871Y;ENSP00000430221:D830Y;ENSP00000429010:D587Y;ENSP00000430487:D871Y|.	ENSP00000254898:D871Y|.	D|K	+|+	1|3	0|2	MATN2|MATN2	99114475|99114475	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	6.069000|6.069000	0.71209|0.71209	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GAC|AAG		PASS	0.378	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			3	18	3	18	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100589769	100589769	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:100589769G>C	ENST00000358544.2	+	33	5314	c.5203G>C	c.(5203-5205)Gac>Cac	p.D1735H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1710H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1735					protein transport (GO:0015031)			p.D1735H(1)|p.D1710H(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACAAACCTGGACTTCTTCCT	0.393																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(5203-5205)GAC>CAC		vacuolar protein sorting 13B isoform 5							140.0	132.0	135.0					8																	100589769		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100589769G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5203G>C	8.37:g.100589769G>C	ENSP00000351346:p.Asp1735His					VPS13B_uc003yiw.2_Missense_Mutation_p.D1710H	p.D1735H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		33	5314	+	Breast(36;3.73e-07)		1735					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5203G>C	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555051|4.555051	0.86231|0.86231	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000357162;ENST00000358544|ENST00000521559	T;T|.	0.69806|.	-0.43;-0.42|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60637|0.60637	0.2284|0.2284	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|.	0.91635|.	0.999;0.998|.	T|T	0.52786|0.52786	-0.8529|-0.8529	10|5	0.56958|.	D|.	0.05|.	.|.	19.7245|19.7245	0.96157|0.96157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1710;1735|.	Q7Z7G8-2;Q7Z7G8|.	.;VP13B_HUMAN|.	H|C	1710;1735|97	ENSP00000349685:D1710H;ENSP00000351346:D1735H|.	ENSP00000349685:D1710H|.	D|W	+|+	1|3	0|0	VPS13B|VPS13B	100658945|100658945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.134000|9.134000	0.94467|0.94467	2.758000|2.758000	0.94735|0.94735	0.591000|0.591000	0.81541|0.81541	GAC|TGG		PASS	0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		43	53	43	53	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100831708	100831708	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:100831708A>T	ENST00000358544.2	+	48	8876	c.8765A>T	c.(8764-8766)aAg>aTg	p.K2922M	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.K2897M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2922					protein transport (GO:0015031)			p.K2897M(1)|p.K2922M(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATAGCCACTAAGGTACACCCT	0.398																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(8764-8766)AAG>ATG		vacuolar protein sorting 13B isoform 5							118.0	111.0	114.0					8																	100831708		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100831708A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8765A>T	8.37:g.100831708A>T	ENSP00000351346:p.Lys2922Met					VPS13B_uc003yiw.2_Missense_Mutation_p.K2897M	p.K2922M	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		48	8876	+	Breast(36;3.73e-07)		2922					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8765A>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.904715	0.72868	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71698	-0.59;-0.59	5.98	5.98	0.97165	.	0.051202	0.85682	D	0.000000	T	0.77785	0.4182	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.964;0.997	T	0.77907	-0.2412	10	0.45353	T	0.12	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	2897;2922	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	M	2897;2922	ENSP00000349685:K2897M;ENSP00000351346:K2922M	ENSP00000349685:K2897M	K	+	2	0	VPS13B	100900884	1.000000	0.71417	0.841000	0.33234	0.695000	0.40330	5.189000	0.65098	2.289000	0.77006	0.482000	0.46254	AAG		PASS	0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		38	47	38	47	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103312247	103312247	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:103312247G>A	ENST00000520539.1	-	23	3693	c.3087C>T	c.(3085-3087)gaC>gaT	p.D1029D	UBR5_ENST00000220959.4_Silent_p.D1029D|UBR5_ENST00000521922.1_Silent_p.D1023D	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1029					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.D1029D(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCGCAGGAGGGTCAGGAACCC	0.443																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - coding silent(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(3085-3087)GAC>GAT		ubiquitin protein ligase E3 component n-recognin							64.0	67.0	66.0					8																	103312247		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103312247G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3087C>T	8.37:g.103312247G>A						UBR5_uc003yks.1_Silent_p.D1029D	p.D1029D	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		23	3120	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1029					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.3087C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	6.736	0.504666	0.12822	.	.	ENSG00000104517	ENST00000520898;ENST00000519365	.	.	.	5.62	0.132	0.14762	.	.	.	.	.	T	0.51176	0.1659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38735	-0.9647	4	.	.	.	.	5.6315	0.17514	0.548:0.1502:0.3018:0.0	.	.	.	.	S	119;145	.	.	P	-	1	0	UBR5	103381423	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.297000	0.33400	0.129000	0.18514	0.585000	0.79938	CCC		PASS	0.443	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		23	38	23	38	---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104442907	104442907	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:104442907C>A	ENST00000297579.5	+	6	1425	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	231					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.P383H(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAGCTACTCCTTTGAAAAAG	0.333																																						uc003yln.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1147-1149)CCT>CAT		WD repeats and SOF1 domain containing							222.0	216.0	218.0					8																	104442907		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104442907C>A	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1148C>A	8.37:g.104442907C>A	ENSP00000297579:p.Pro383His					DCAF13_uc003ylm.1_Missense_Mutation_p.P116H|DCAF13_uc003ylo.2_Missense_Mutation_p.P94H	p.P383H	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			6	1425	+			231			WD 4.		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1148C>A	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449228	0.84101	.	.	ENSG00000164934	ENST00000297579	T	0.01474	4.85	5.25	5.25	0.73442	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	0.15003	0.0362	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.00970	-1.1496	10	0.87932	D	0	-16.7413	18.8475	0.92213	0.0:1.0:0.0:0.0	.	231	Q9NV06	DCA13_HUMAN	H	383	ENSP00000297579:P383H	ENSP00000297579:P383H	P	+	2	0	DCAF13	104512083	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.294000	0.78760	2.466000	0.83321	0.557000	0.71058	CCT		PASS	0.333	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		11	136	11	136	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898348	104898348	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:104898348G>A	ENST00000436393.2	+	2	1096	c.855G>A	c.(853-855)atG>atA	p.M285I	RIMS2_ENST00000507740.1_Missense_Mutation_p.M315I|RIMS2_ENST00000262231.10_Missense_Mutation_p.M315I|RIMS2_ENST00000406091.3_Missense_Mutation_p.M507I			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	538					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.M315I(2)|p.M285I(1)|p.M543I(1)|p.M507I(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)			GCGGTAAAATGCGCCAGATTT	0.428										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.(853-855)ATG>ATA		regulating synaptic membrane exocytosis 2							61.0	59.0	60.0					8																	104898348		2026	4157	6183	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898348G>A	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.855G>A	8.37:g.104898348G>A	ENSP00000390665:p.Met285Ile	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.M507I|RIMS2_uc003ylw.2_Missense_Mutation_p.M315I|RIMS2_uc003ylq.2_Missense_Mutation_p.M315I|RIMS2_uc003ylr.2_Missense_Mutation_p.M315I	p.M285I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1096	+			538					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.855G>A		.	.	.	.	.	.	.	.	.	.	G	18.72	3.684480	0.68157	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.18016	2.24;2.72;2.32;2.39;2.39;2.31;2.7	5.54	5.54	0.83059	.	.	.	.	.	T	0.21022	0.0506	L	0.38175	1.15	0.80722	D	1	B;B;B;B;B	0.31274	0.215;0.155;0.202;0.264;0.317	B;B;B;B;B	0.36567	0.101;0.108;0.205;0.107;0.228	T	0.02581	-1.1138	9	0.59425	D	0.04	.	19.4835	0.95020	0.0:0.0:1.0:0.0	.	538;285;315;315;507	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	I	507;538;507;538;315;315;315;315;285	ENSP00000427018:M507I;ENSP00000384892:M507I;ENSP00000425205:M315I;ENSP00000262231:M315I;ENSP00000423559:M315I;ENSP00000386228:M315I;ENSP00000390665:M285I	ENSP00000262231:M315I	M	+	3	0	RIMS2	104967524	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.815000	0.86186	2.597000	0.87782	0.563000	0.77884	ATG		PASS	0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		21	21	21	21	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113871489	113871489	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:113871489G>A	ENST00000297405.5	-	11	1884	c.1640C>T	c.(1639-1641)aCg>aTg	p.T547M	CSMD3_ENST00000455883.2_Missense_Mutation_p.T443M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T507M|CSMD3_ENST00000352409.3_Missense_Mutation_p.T547M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	547						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T507M(1)|p.T547M(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						AGAGCCACACGTTTTCACTAA	0.353										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.(1639-1641)ACG>ATG		CUB and Sushi multiple domains 3 isoform 1							97.0	85.0	89.0					8																	113871489		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113871489G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1640C>T	8.37:g.113871489G>A	ENSP00000297405:p.Thr547Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.T507M|CSMD3_uc011lhx.1_Missense_Mutation_p.T443M	p.T547M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			11	1799	-			547			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1640C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357104	0.82243	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.66	5.66	0.87406	CUB (1);Complement control module (1);	0.000000	0.64402	D	0.000001	T	0.35941	0.0949	N	0.20445	0.575	0.48087	D	0.999585	D;D;B	0.76494	0.999;0.997;0.274	D;P;B	0.66497	0.944;0.893;0.066	T	0.06144	-1.0843	10	0.25751	T	0.34	.	19.7491	0.96260	0.0:0.0:1.0:0.0	.	443;547;507	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	507;547;443;547	ENSP00000345799:T507M;ENSP00000297405:T547M;ENSP00000412263:T443M;ENSP00000343124:T547M	ENSP00000297405:T547M	T	-	2	0	CSMD3	113940665	1.000000	0.71417	0.974000	0.42286	0.978000	0.69477	9.775000	0.98995	2.661000	0.90470	0.585000	0.79938	ACG		PASS	0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	48	8	48	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114031360	114031360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:114031360C>T	ENST00000297405.5	-	6	1210	c.966G>A	c.(964-966)tgG>tgA	p.W322*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W322*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W282*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W322*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	322	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.		W -> G (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W282*(1)|p.W322C(1)|p.W322*(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						GCAGTCTGAGCCAGTTTTTGT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			3	Substitution - Nonsense(2)|Substitution - Missense(1)	p.W322G(1)	lung(3)	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.(964-966)TGG>TGA		CUB and Sushi multiple domains 3 isoform 1							215.0	195.0	202.0					8																	114031360		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:114031360C>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.966G>A	8.37:g.114031360C>T	ENSP00000297405:p.Trp322*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Nonsense_Mutation_p.W282*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W322*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.W322*	p.W322*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			6	1125	-			322		W -> G (in a colorectal cancer sample; somatic mutation).	Extracellular (Potential).|CUB 2.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.966G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	37	6.413276	0.97546	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.6181	0.95643	0.0:1.0:0.0:0.0	.	.	.	.	X	282;322;322;322	.	ENSP00000297405:W322X	W	-	3	0	CSMD3	114100536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.639000	0.89480	0.460000	0.39030	TGG		PASS	0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		34	65	34	65	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116631903	116631903	+	Missense_Mutation	SNP	G	G	A	rs201699015		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:116631903G>A	ENST00000220888.5	-	2	542	c.383C>T	c.(382-384)cCg>cTg	p.P128L	TRPS1_ENST00000519674.1_Missense_Mutation_p.P128L|TRPS1_ENST00000520276.1_Missense_Mutation_p.P132L|TRPS1_ENST00000395715.3_Missense_Mutation_p.P141L|TRPS1_ENST00000519076.1_Missense_Mutation_p.P82L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	128					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P128L(1)|p.P141L(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGCTCTTTGCGGAGACTTCAA	0.522									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(382-384)CCG>CTG		zinc finger transcription factor TRPS1		G	LEU/PRO	0,3852		0,0,1926	58.0	58.0	58.0		422	5.8	1.0	8		58	3,8259		0,3,4128	yes	missense	TRPS1	NM_014112.2	98	0,3,6054	AA,AG,GG		0.0363,0.0,0.0248	probably-damaging	141/1295	116631903	3,12111	1926	4131	6057	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631903G>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.383C>T	8.37:g.116631903G>A	ENSP00000220888:p.Pro128Leu					TRPS1_uc011lhy.1_Missense_Mutation_p.P132L|TRPS1_uc003yny.2_Missense_Mutation_p.P141L|TRPS1_uc010mcy.2_Missense_Mutation_p.P128L	p.P128L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	842	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		128					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.383C>T		.	.	.	.	.	.	.	.	.	.	G	21.9	4.222946	0.79464	0.0	3.63E-4	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.99494	-5.58;-5.54;-6.01;-5.54;0.23	5.82	5.82	0.92795	.	0.080321	0.53938	D	0.000059	D	0.99105	0.9692	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.988;0.995	D	0.99931	1.1318	10	0.87932	D	0	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	132;128;141	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	L	141;128;82;132;128	ENSP00000379065:P141L;ENSP00000220888:P128L;ENSP00000428910:P82L;ENSP00000428680:P132L;ENSP00000429174:P128L	ENSP00000220888:P128L	P	-	2	0	TRPS1	116701078	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.582000	0.74049	2.751000	0.94390	0.650000	0.86243	CCG		PASS	0.522	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		21	44	21	44	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120605998	120605998	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:120605998C>T	ENST00000075322.6	-	12	1133	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	ENPP2_ENST00000522826.1_Missense_Mutation_p.D359N|ENPP2_ENST00000259486.6_Missense_Mutation_p.D411N|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000427067.2_Missense_Mutation_p.D355N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	359					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D359N(1)|p.D411N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACCATGGTCTCCGACAAAG	0.398																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1075-1077)GAC>AAC		autotaxin isoform 2 preproprotein							232.0	216.0	221.0					8																	120605998		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120605998C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1075G>A	8.37:g.120605998C>T	ENSP00000075322:p.Asp359Asn					ENPP2_uc003yor.1_5'Flank|ENPP2_uc003yos.1_Missense_Mutation_p.D411N|ENPP2_uc010mdd.1_Missense_Mutation_p.D359N	p.D359N	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1161	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		359				Zinc 1 (By similarity).	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1075G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657174	0.88154	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97417	0.9155	H	0.95504	3.68	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.99	D;D;D	0.73708	0.963;0.981;0.937	D	0.98350	1.0543	10	0.87932	D	0	.	19.2484	0.93912	0.0:1.0:0.0:0.0	.	359;359;411	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	N	411;355;359;359	ENSP00000259486:D411N;ENSP00000403315:D355N;ENSP00000428291:D359N;ENSP00000075322:D359N	ENSP00000075322:D359N	D	-	1	0	ENPP2	120675179	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.750000	0.85110	2.629000	0.89072	0.655000	0.94253	GAC		PASS	0.398	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			56	218	56	218	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120810067	120810067	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:120810067G>C	ENST00000378164.2	-	7	1110	c.812C>G	c.(811-813)cCc>cGc	p.P271R		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	271					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P271R(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAGAAGTTGGGGCAAACAAAA	0.323																																						uc003you.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(811-813)CCC>CGC		TBP-associated factor 2							73.0	73.0	73.0					8																	120810067		2203	4299	6502	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120810067G>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.812C>G	8.37:g.120810067G>C	ENSP00000367406:p.Pro271Arg						p.P271R	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		7	1082	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		271					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.812C>G	CCDS34937.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.809195|4.809195	0.90707|0.90707	.|.	.|.	ENSG00000064313|ENSG00000064313	ENST00000523904|ENST00000378164	T|T	0.06449|0.06528	3.3|3.29	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.35799|0.35799	0.0944|0.0944	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.20009|0.20009	-1.0288|-1.0288	8|10	0.87932|0.87932	D|D	0|0	-27.25|-27.25	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|271	.|Q6P1X5	.|TAF2_HUMAN	A|R	2|271	ENSP00000430832:P2A|ENSP00000367406:P271R	ENSP00000430832:P2A|ENSP00000367406:P271R	P|P	-|-	1|2	0|0	TAF2|TAF2	120879248|120879248	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	9.814000|9.814000	0.99346|0.99346	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CCC|CCC		PASS	0.323	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		12	33	12	33	---	---	---	---
TRIB1	10221	broad.mit.edu	37	8	126445615	126445615	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:126445615G>T	ENST00000311922.3	+	2	999	c.417G>T	c.(415-417)tcG>tcT	p.S139S	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000519576.1_5'Flank	NM_001282985.1|NM_025195.2	NP_001269914.1|NP_079471.1			tribbles pseudokinase 1									p.S139S(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGCTGCCATCGCACAGCAACA	0.493																																						uc003yrx.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	lung(1)	1						c.(415-417)TCG>TCT		G-protein-coupled receptor induced protein							193.0	194.0	194.0					8																	126445615		2203	4300	6503	SO:0001819	synonymous_variant	10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126445615G>T	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000311922.3:c.417G>T	8.37:g.126445615G>T						TRIB1_uc011lis.1_5'UTR|TRIB1_uc010mdn.2_5'Flank	p.S139S	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		2	999	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		139			Protein kinase.			Silent	SNP	ENST00000311922.3	37	c.417G>T	CCDS6357.1																																																																																				PASS	0.493	TRIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381430.1	NM_025195		80	225	80	225	---	---	---	---
TG	7038	broad.mit.edu	37	8	133895148	133895148	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:133895148G>T	ENST00000220616.4	+	8	1019	c.979G>T	c.(979-981)Gcg>Tcg	p.A327S	TG_ENST00000377869.1_Missense_Mutation_p.A327S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	327	Thyroglobulin type-1 4. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.A327S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CGACTATCAGGCGGTGCAGTG	0.592																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(979-981)GCG>TCG		thyroglobulin precursor							51.0	50.0	51.0					8																	133895148		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133895148G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.979G>T	8.37:g.133895148G>T	ENSP00000220616:p.Ala327Ser						p.A327S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	8	1020	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	327			Thyroglobulin type-1 4.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.979G>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	5.575	0.290988	0.10567	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.63580	-0.05;-0.05	5.49	1.51	0.23008	Thyroglobulin type-1 (6);	0.578238	0.16449	N	0.213930	T	0.43765	0.1262	L	0.28344	0.845	0.09310	N	1	B	0.25850	0.136	B	0.27608	0.081	T	0.30504	-0.9976	10	0.45353	T	0.12	.	4.8253	0.13412	0.082:0.4252:0.3218:0.171	.	327	P01266	THYG_HUMAN	S	327	ENSP00000367100:A327S;ENSP00000220616:A327S	ENSP00000220616:A327S	A	+	1	0	TG	133964330	0.012000	0.17670	0.004000	0.12327	0.277000	0.26821	0.900000	0.28431	0.234000	0.21139	0.563000	0.77884	GCG		PASS	0.592	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	33	5	33	---	---	---	---
ST3GAL1	6482	broad.mit.edu	37	8	134478270	134478270	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:134478270C>A	ENST00000319914.5	-	5	1397	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.V124L|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.V124L|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.V124L			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	124					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.V124L(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)			TTCCCAGGCACCACTCTGAAC	0.587																																						uc003yuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GTG>TTG		ST3 beta-galactoside alpha-2,3-sialyltransferase							91.0	88.0	89.0					8																	134478270		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.chr8:134478270C>A	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.370G>T	8.37:g.134478270C>A	ENSP00000318445:p.Val124Leu					ST3GAL1_uc003yum.2_Missense_Mutation_p.V124L	p.V124L	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		6	1199	-	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)		124			Lumenal (Potential).		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.370G>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576132	0.65878	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.7	3.55	0.40652	.	0.110456	0.64402	D	0.000010	T	0.12987	0.0315	N	0.11724	0.165	0.41674	D	0.989257	B	0.25390	0.125	B	0.25759	0.063	T	0.14144	-1.0483	10	0.15499	T	0.54	-13.3504	3.7927	0.08727	0.0:0.6609:0.0:0.3391	.	124	Q11201	SIA4A_HUMAN	L	124	ENSP00000318445:V124L;ENSP00000414073:V124L;ENSP00000428540:V124L;ENSP00000430515:V124L	ENSP00000318445:V124L	V	-	1	0	ST3GAL1	134547452	1.000000	0.71417	0.939000	0.37840	0.950000	0.60333	2.427000	0.44740	2.328000	0.79073	0.561000	0.74099	GTG		PASS	0.587	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		17	67	17	67	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139890506	139890506	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:139890506C>T	ENST00000303045.6	-	3	591	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	COL22A1_ENST00000435777.1_Missense_Mutation_p.V49M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	49	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V49M(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTTGCCCACGCTGGAGGAG	0.622										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(145-147)GTG>ATG		collagen, type XXII, alpha 1							24.0	19.0	20.0					8																	139890506		2203	4299	6502	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890506C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.145G>A	8.37:g.139890506C>T	ENSP00000303153:p.Val49Met	HNSCC(7;0.00092)					p.V49M	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	592	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		49			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.145G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916041	0.92178	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.82619	-1.63;-1.63	5.19	5.19	0.71726	von Willebrand factor, type A (3);	0.000000	0.42964	U	0.000638	D	0.88709	0.6510	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87685	0.2550	9	.	.	.	.	17.6975	0.88285	0.0:1.0:0.0:0.0	.	49	Q8NFW1	COMA1_HUMAN	M	49	ENSP00000303153:V49M;ENSP00000387655:V49M	.	V	-	1	0	COL22A1	139959688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.896000	0.69822	2.385000	0.81259	0.650000	0.86243	GTG		PASS	0.622	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	2	6	2	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142458036	142458036	+	RNA	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:142458036G>T	ENST00000430863.1	-	0	2870				SNORD5_ENST00000458800.1_RNA	NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CCGCCTCCTGGGCCTGCTGCT	0.652																																						uc003ywi.2																			0					0						c.(2788-2790)GCC>GCA		hypothetical protein LOC389690							22.0	25.0	24.0					8																	142458036		1980	4155	6135			389690						binding	g.chr8:142458036G>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142458036G>T						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.A930A	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		23	2871	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		930						Silent	SNP	ENST00000430863.1	37	c.2790C>A																																																																																					PASS	0.652	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		6	7	6	7	---	---	---	---
LY6K	54742	broad.mit.edu	37	8	143784555	143784555	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:143784555T>C	ENST00000292430.6	+	3	681	c.264T>C	c.(262-264)ggT>ggC	p.G88G	LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000561179.1_Silent_p.G146G|LY6K_ENST00000519387.1_Silent_p.L78L|LY6K_ENST00000519390.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	88	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G146G(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCTCCGCTGGTTGTGCAGCGA	0.473																																						uc011ljv.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(262-264)GGT>GGC		lymphocyte antigen 6 complex, locus K isoform 1							72.0	70.0	71.0					8																	143784555		2203	4300	6503	SO:0001819	synonymous_variant	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143784555T>C	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.264T>C	8.37:g.143784555T>C						LY6K_uc011ljw.1_3'UTR|LY6K_uc011ljx.1_Silent_p.L78L	p.G88G	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN			3	681	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		88			UPAR/Ly6.		G3V116|O15227|Q9BVD7	Silent	SNP	ENST00000292430.6	37	c.264T>C	CCDS6385.2																																																																																				PASS	0.473	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		23	37	23	37	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143999104	143999104	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:143999104C>A	ENST00000323110.2	-	1	155	c.153G>T	c.(151-153)agG>agT	p.R51S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	51					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R51S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TCTGCAGCAGCCTCAGCCACC	0.627									Familial Hyperaldosteronism type I																													uc003yxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)AGG>AGT		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						82.0	73.0	76.0					8																	143999104		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999104C>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.153G>T	8.37:g.143999104C>A	ENSP00000325822:p.Arg51Ser						p.R51S	NM_000498	NP_000489	P19099	C11B2_HUMAN			1	156	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		51					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.153G>T	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238571	0.22711	.	.	ENSG00000179142	ENST00000323110	T	0.68025	-0.3	3.48	3.48	0.39840	.	0.549745	0.14622	U	0.308347	T	0.55273	0.1910	L	0.48877	1.53	0.23320	N	0.997916	B	0.20459	0.045	B	0.25759	0.063	T	0.38908	-0.9639	10	0.11794	T	0.64	.	9.0067	0.36115	0.0:0.7723:0.2276:0.0	.	51	P19099	C11B2_HUMAN	S	51	ENSP00000325822:R51S	ENSP00000325822:R51S	R	-	3	2	CYP11B2	143996106	1.000000	0.71417	0.009000	0.14445	0.005000	0.04900	3.324000	0.52022	1.950000	0.56595	0.655000	0.94253	AGG		PASS	0.627	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			26	55	26	55	---	---	---	---
DMRT1	1761	broad.mit.edu	37	9	894055	894055	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:894055T>C	ENST00000382276.3	+	3	831	c.682T>C	c.(682-684)Tgc>Cgc	p.C228R	DMRT1_ENST00000569227.1_Missense_Mutation_p.C70R	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	228					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C228R(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TCTATACAACTGCCCGCAGTA	0.552											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(682-684)TGC>CGC		doublesex and mab-3 related transcription factor							112.0	99.0	104.0					9																	894055		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:894055T>C	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.682T>C	9.37:g.894055T>C	ENSP00000371711:p.Cys228Arg		OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	DMRT1_uc003zgu.1_Missense_Mutation_p.C228R	p.C228R	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	3	831	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	228					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.682T>C	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941493	0.53079	.	.	ENSG00000137090	ENST00000382276	T	0.16743	2.32	5.92	5.92	0.95590	.	0.060965	0.64402	D	0.000002	T	0.11410	0.0278	N	0.08118	0	0.51482	D	0.999925	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.09618	-1.0666	10	0.62326	D	0.03	.	16.3996	0.83635	0.0:0.0:0.0:1.0	.	228;228	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	R	228	ENSP00000371711:C228R	ENSP00000371711:C228R	C	+	1	0	DMRT1	884055	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.729000	0.68538	2.275000	0.75901	0.529000	0.55759	TGC		PASS	0.552	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		44	9	44	9	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16552644	16552644	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:16552644G>A	ENST00000380672.4	-	5	610	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	BNC2_ENST00000380666.2_Missense_Mutation_p.R185W|BNC2_ENST00000380667.2_Missense_Mutation_p.R118W|BNC2_ENST00000545497.1_Missense_Mutation_p.R90W	NM_017637.5	NP_060107.3			basonuclin 2									p.R185W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATCTTTAGCCGCACAGGCACT	0.572																																						uc003zml.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(553-555)CGG>TGG		basonuclin 2							128.0	97.0	107.0					9																	16552644		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16552644G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.553C>T	9.37:g.16552644G>A	ENSP00000370047:p.Arg185Trp					BNC2_uc011lmw.1_Missense_Mutation_p.R90W|BNC2_uc003zmm.2_Missense_Mutation_p.R143W|BNC2_uc003zmq.1_Missense_Mutation_p.R199W|BNC2_uc003zmr.1_Missense_Mutation_p.R222W|BNC2_uc003zmp.1_Missense_Mutation_p.R213W|BNC2_uc010mij.1_Missense_Mutation_p.R107W|BNC2_uc011lmv.1_Missense_Mutation_p.R11W|BNC2_uc003zmo.1_Missense_Mutation_p.R107W	p.R185W	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	693	-			185						Missense_Mutation	SNP	ENST00000380672.4	37	c.553C>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155659	0.57259	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	6.08	2.99	0.34606	.	0.000000	0.85682	D	0.000000	D	0.92541	0.7631	M	0.76328	2.33	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.982;0.996;0.999;1.0;0.985;0.993	D	0.93184	0.6577	10	0.87932	D	0	-13.7656	14.6211	0.68584	0.0:0.0:0.5036:0.4964	.	90;118;222;185;11;143;185	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	W	185;142;222;213;118;90;11;185;185	ENSP00000370047:R185W;ENSP00000408370:R142W;ENSP00000370042:R118W;ENSP00000444640:R90W;ENSP00000370041:R185W	ENSP00000370041:R185W	R	-	1	2	BNC2	16542644	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	1.223000	0.32527	0.889000	0.36185	-0.282000	0.10007	CGG		PASS	0.572	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		13	17	13	17	---	---	---	---
FOCAD	54914	broad.mit.edu	37	9	20764907	20764907	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:20764907G>T	ENST00000380249.1	+	9	898	c.534G>T	c.(532-534)ctG>ctT	p.L178L	FOCAD_ENST00000338382.6_Silent_p.L178L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	178						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.L178L(1)									CACCATTTCTGTGGTATCTGT	0.378																																						uc003zog.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|kidney(1)	10						c.(532-534)CTG>CTT		hypothetical protein LOC54914							174.0	160.0	165.0					9																	20764907		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20764907G>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.534G>T	9.37:g.20764907G>T							p.L178L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	9	897	+			178					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.534G>T	CCDS34993.1																																																																																				PASS	0.378	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		24	51	24	51	---	---	---	---
IFNA1	3439	broad.mit.edu	37	9	21441038	21441038	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:21441038T>A	ENST00000276927.1	+	1	599	c.532T>A	c.(532-534)Tca>Aca	p.S178T		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	178					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S178T(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CCTCTCTTTATCAACAAACTT	0.403																																						uc003zpd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(532-534)TCA>ACA		interferon, alpha 1 precursor							105.0	120.0	115.0					9																	21441038		2203	4300	6503	SO:0001583	missense	3439				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21441038T>A		CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"""Interferons"""	5417	protein-coding gene	gene with protein product	"""IFN-alpha 1b"", ""interferon alpha 1b"""	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.532T>A	9.37:g.21441038T>A	ENSP00000276927:p.Ser178Thr						p.S178T	NM_024013	NP_076918	P01562	IFNA1_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	599	+			178					D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000276927.1	37	c.532T>A	CCDS6508.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424789	0.25639	.	.	ENSG00000197919	ENST00000276927	T	0.03889	3.77	3.17	0.473	0.16763	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.443903	0.19968	N	0.102058	T	0.08582	0.0213	M	0.80332	2.49	0.09310	N	1	B	0.06786	0.001	B	0.29353	0.101	T	0.22417	-1.0217	10	0.66056	D	0.02	.	6.4025	0.21646	0.3954:0.0:0.0:0.6045	.	178	P01562	IFNA1_HUMAN	T	178	ENSP00000276927:S178T	ENSP00000276927:S178T	S	+	1	0	IFNA1	21431038	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.033000	0.12246	-0.018000	0.14079	0.487000	0.48397	TCA		PASS	0.403	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051902.1	NM_024013		68	34	68	34	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32631014	32631014	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:32631014C>A	ENST00000242310.4	-	1	4653	c.4564G>T	c.(4564-4566)Gac>Tac	p.D1522Y	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1522					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.D1522Y(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCCACTTGGTCATCATCATCC	0.403																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4564-4566)GAC>TAC		TBP-associated factor RNA polymerase 1-like							179.0	161.0	167.0					9																	32631014		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631014C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4564G>T	9.37:g.32631014C>A	ENSP00000418379:p.Asp1522Tyr					uc003zrh.1_5'Flank	p.D1522Y	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4654	-			1522					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4564G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605069	0.66445	.	.	ENSG00000122728	ENST00000242310	T	0.10005	2.92	0.489	0.489	0.16854	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	M	0.80183	2.485	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.02625	-1.1132	10	0.87932	D	0	.	6.7111	0.23278	0.0:0.9999:0.0:1.0E-4	.	1522	Q8IZX4	TAF1L_HUMAN	Y	1522	ENSP00000418379:D1522Y	ENSP00000418379:D1522Y	D	-	1	0	TAF1L	32621014	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	1.282000	0.33226	0.514000	0.28300	0.205000	0.17691	GAC		PASS	0.403	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			55	19	55	19	---	---	---	---
NFX1	4799	broad.mit.edu	37	9	33344173	33344173	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:33344173G>T	ENST00000379540.3	+	14	2393	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D	NFX1_ENST00000318524.6_Missense_Mutation_p.E777D|NFX1_ENST00000379521.4_Missense_Mutation_p.E777D	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	777					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E777D(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAGTCCATGAGTGTGACCATC	0.493																																						uc003zsq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2329-2331)GAG>GAT		nuclear transcription factor, X-box binding 1							178.0	132.0	148.0					9																	33344173		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33344173G>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2331G>T	9.37:g.33344173G>T	ENSP00000368856:p.Glu777Asp					SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.E777D|NFX1_uc003zso.2_Missense_Mutation_p.E777D|NFX1_uc003zsp.1_Missense_Mutation_p.E777D|NFX1_uc010mjr.1_Missense_Mutation_p.E778D|NFX1_uc003zsr.2_Missense_Mutation_p.E778D	p.E777D	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	14	2392	+			777					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.2331G>T	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342079	0.24339	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.29142	1.58;1.58;1.58	5.49	-7.57	0.01318	.	0.327188	0.36101	N	0.002784	T	0.08714	0.0216	N	0.05124	-0.11	0.34830	D	0.739599	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.10450	0.002;0.001;0.001;0.002;0.005	T	0.11792	-1.0573	10	0.22706	T	0.39	-7.1498	4.2331	0.10613	0.2133:0.2331:0.4398:0.1139	.	777;661;777;777;777	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	D	777	ENSP00000368856:E777D;ENSP00000368836:E777D;ENSP00000317695:E777D	ENSP00000317695:E777D	E	+	3	2	NFX1	33334173	0.075000	0.21258	0.884000	0.34674	0.957000	0.61999	-0.489000	0.06490	-1.329000	0.02258	-0.415000	0.06103	GAG		PASS	0.493	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			31	13	31	13	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37744832	37744832	+	Missense_Mutation	SNP	G	G	C	rs369816407		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:37744832G>C	ENST00000539465.1	+	16	3396	c.2803G>C	c.(2803-2805)Gac>Cac	p.D935H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D935H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	935						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.D935H(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ATCAGTCATCGACTCTCGAGT	0.542																																						uc004aag.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2803-2805)GAC>CAC		FERM and PDZ domain containing 1							114.0	99.0	104.0					9																	37744832		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37744832G>C	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2803G>C	9.37:g.37744832G>C	ENSP00000444411:p.Asp935His					FRMPD1_uc004aah.1_Missense_Mutation_p.D935H	p.D935H	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	2847	+			935					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2803G>C	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013181	0.75161	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.14266	2.52;2.52	5.11	5.11	0.69529	.	0.220560	0.45126	D	0.000393	T	0.35711	0.0941	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06516	-1.0822	10	0.72032	D	0.01	-22.7956	16.0381	0.80645	0.0:0.0:1.0:0.0	.	935	Q5SYB0	FRPD1_HUMAN	H	935	ENSP00000366995:D935H;ENSP00000444411:D935H	ENSP00000366995:D935H	D	+	1	0	FRMPD1	37734832	1.000000	0.71417	0.929000	0.37066	0.989000	0.77384	7.228000	0.78079	2.372000	0.80975	0.561000	0.74099	GAC		PASS	0.542	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		46	64	46	64	---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84249063	84249063	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:84249063G>A	ENST00000376499.3	-	7	1590	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	TLE1_ENST00000376463.1_Missense_Mutation_p.H120Y|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	176	Gly/Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)	p.H176Y(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATTGCCAAGTGAGACTGCCCA	0.572																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(526-528)CAC>TAC		transducin-like enhancer protein 1							28.0	24.0	25.0					9																	84249063		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84249063G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.526C>T	9.37:g.84249063G>A	ENSP00000365682:p.His176Tyr					TLE1_uc004alz.2_Missense_Mutation_p.H186Y|TLE1_uc011lsr.1_Missense_Mutation_p.H176Y|TLE1_uc004ama.1_Missense_Mutation_p.H176Y|TLE1_uc011lss.1_Intron|TLE1_uc004amb.2_Missense_Mutation_p.H176Y	p.H176Y	NM_005077	NP_005068	Q04724	TLE1_HUMAN			7	967	-			176			Gly/Pro-rich.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.526C>T	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454615	0.63290	.	.	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319;ENST00000376463	T;T;T	0.50001	0.83;1.31;0.76	5.7	5.7	0.88788	.	0.214372	0.42172	D	0.000743	T	0.72382	0.3453	M	0.83953	2.67	0.80722	D	1	P;D;D;P;P	0.57899	0.848;0.981;0.966;0.851;0.949	B;D;P;P;P	0.67900	0.371;0.954;0.742;0.775;0.507	T	0.74827	-0.3532	10	0.62326	D	0.03	-21.7897	19.8344	0.96650	0.0:0.0:1.0:0.0	.	176;186;203;186;176	B4DEF9;A6NFH2;Q59EF7;Q5T3G3;Q04724	.;.;.;.;TLE1_HUMAN	Y	176;186;186;120	ENSP00000365682:H176Y;ENSP00000391347:H186Y;ENSP00000365646:H120Y	ENSP00000347102:H186Y	H	-	1	0	TLE1	83438883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.502000	0.97981	2.692000	0.91855	0.655000	0.94253	CAC		PASS	0.572	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		5	3	5	3	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90501662	90501662	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:90501662A>G	ENST00000325643.5	+	4	2326	c.2260A>G	c.(2260-2262)Agg>Ggg	p.R754G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	754					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R754G(1)									TTCCACACCCAGGGACCCAGA	0.552																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2260-2262)AGG>GGG		chromosome 9 open reading frame 79							65.0	62.0	63.0					9																	90501662		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90501662A>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2260A>G	9.37:g.90501662A>G	ENSP00000322640:p.Arg754Gly					C9orf79_uc004apo.1_Missense_Mutation_p.R566G	p.R754G	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2295	+			754					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2260A>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	a	11.39	1.625145	0.28889	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.07688	3.17	2.43	-0.169	0.13339	.	1.205650	0.05899	N	0.629747	T	0.14700	0.0355	L	0.52011	1.625	0.09310	N	1	P;D	0.65815	0.627;0.995	B;P	0.58721	0.155;0.844	T	0.19844	-1.0293	10	0.33141	T	0.24	.	2.1843	0.03882	0.5975:0.0:0.1538:0.2487	.	754;406	Q6ZUB1;Q8NA33	CI079_HUMAN;.	G	754;406	ENSP00000322640:R754G	ENSP00000322640:R754G	R	+	1	2	C9orf79	89691482	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.390000	0.02528	-0.043000	0.13513	-0.410000	0.06199	AGG		PASS	0.552	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		6	26	6	26	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90501901	90501901	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:90501901G>T	ENST00000325643.5	+	4	2565	c.2499G>T	c.(2497-2499)caG>caT	p.Q833H		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	833					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q833H(1)									GCACCCAGCAGATACTGGAAG	0.572																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2497-2499)CAG>CAT		chromosome 9 open reading frame 79							52.0	54.0	54.0					9																	90501901		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90501901G>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2499G>T	9.37:g.90501901G>T	ENSP00000322640:p.Gln833His					C9orf79_uc004apo.1_Missense_Mutation_p.Q645H	p.Q833H	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2534	+			833					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2499G>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	8.871	0.949394	0.18356	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.05319	3.46	2.43	0.384	0.16244	.	1.727610	0.03209	N	0.175960	T	0.09202	0.0227	M	0.67397	2.05	0.09310	N	1	P;B	0.42941	0.794;0.184	B;B	0.39027	0.288;0.1	T	0.32561	-0.9902	10	0.38643	T	0.18	.	4.6096	0.12395	0.0:0.2493:0.4953:0.2554	.	833;485	Q6ZUB1;Q8NA33	CI079_HUMAN;.	H	833;485	ENSP00000322640:Q833H	ENSP00000322640:Q833H	Q	+	3	2	C9orf79	89691721	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.140000	0.16056	0.095000	0.17434	-0.232000	0.12228	CAG		PASS	0.572	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		19	6	19	6	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90502545	90502545	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:90502545C>A	ENST00000325643.5	+	4	3209	c.3143C>A	c.(3142-3144)aCc>aAc	p.T1048N		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1048					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T1048N(1)									TGGGAAGTCACCTTGGGAGCC	0.602																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3142-3144)ACC>AAC		chromosome 9 open reading frame 79							76.0	76.0	76.0					9																	90502545		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90502545C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3143C>A	9.37:g.90502545C>A	ENSP00000322640:p.Thr1048Asn						p.T1048N	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3178	+			1048					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3143C>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.670184	0.29693	.	.	ENSG00000177992	ENST00000325643	T	0.03441	3.93	2.66	1.63	0.23807	.	1.560180	0.04335	N	0.353010	T	0.04048	0.0113	N	0.19112	0.55	0.09310	N	1	P	0.42941	0.794	P	0.45610	0.487	T	0.33929	-0.9849	10	0.37606	T	0.19	.	2.7665	0.05321	0.0:0.4598:0.0:0.5402	.	1048	Q6ZUB1	CI079_HUMAN	N	1048	ENSP00000322640:T1048N	ENSP00000322640:T1048N	T	+	2	0	C9orf79	89692365	0.001000	0.12720	0.003000	0.11579	0.012000	0.07955	-0.400000	0.07241	0.544000	0.28883	0.563000	0.77884	ACC		PASS	0.602	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		50	10	50	10	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96407921	96407921	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:96407921G>C	ENST00000359246.4	+	4	677	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	104					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.V104L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGCTGAAGACGTGGTGGCCCG	0.647																																						uc004aub.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(310-312)GTG>CTG		PHD finger protein 2							82.0	77.0	79.0					9																	96407921		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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.chr9:96407921G>C	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.310G>C	9.37:g.96407921G>C	ENSP00000352185:p.Val104Leu					PHF2_uc011lug.1_5'UTR	p.V104L	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	4	457	+		Myeloproliferative disorder(762;0.0255)	104					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.310G>C	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594114	0.46214	.	.	ENSG00000197724	ENST00000359246	T	0.68903	-0.36	4.61	4.61	0.57282	.	0.165341	0.40554	N	0.001065	T	0.51007	0.1649	L	0.42744	1.35	0.80722	D	1	P	0.39576	0.679	B	0.29176	0.099	T	0.58713	-0.7588	10	0.72032	D	0.01	-22.1932	8.2053	0.31452	0.1831:0.0:0.8169:0.0	.	104	O75151	PHF2_HUMAN	L	104	ENSP00000352185:V104L	ENSP00000352185:V104L	V	+	1	0	PHF2	95447742	1.000000	0.71417	0.872000	0.34217	0.862000	0.49288	4.738000	0.62073	2.387000	0.81309	0.460000	0.39030	GTG		PASS	0.647	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		47	17	47	17	---	---	---	---
OR13C9	286362	broad.mit.edu	37	9	107379788	107379788	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:107379788C>A	ENST00000259362.1	-	1	697	c.698G>T	c.(697-699)gGg>gTg	p.G233V		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G233V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TTTGCTTCTCCCCTCAGAGGA	0.428																																						uc011lvr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GGG>GTG		olfactory receptor, family 13, subfamily C,							81.0	78.0	79.0					9																	107379788		2202	4300	6502	SO:0001583	missense	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379788C>A		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.698G>T	9.37:g.107379788C>A	ENSP00000259362:p.Gly233Val						p.G233V	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	698	-			233			Cytoplasmic (Potential).		Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	c.698G>T	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462010	0.63513	.	.	ENSG00000136839	ENST00000259362	T	0.00299	8.22	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.132361	0.34067	N	0.004300	T	0.01061	0.0035	H	0.95224	3.64	0.45676	D	0.998593	D	0.89917	1.0	D	0.87578	0.998	T	0.50634	-0.8805	10	0.87932	D	0	.	14.6428	0.68737	0.0:1.0:0.0:0.0	.	233	Q8NGT0	O13C9_HUMAN	V	233	ENSP00000259362:G233V	ENSP00000259362:G233V	G	-	2	0	OR13C9	106419609	0.905000	0.30787	1.000000	0.80357	0.983000	0.72400	4.943000	0.63554	2.271000	0.75665	0.643000	0.83706	GGG		PASS	0.428	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			10	40	10	40	---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108366510	108366510	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:108366510G>T	ENST00000223528.2	+	5	508	c.384G>T	c.(382-384)cgG>cgT	p.R128R	FKTN_ENST00000448551.2_Silent_p.R128R|FKTN_ENST00000540160.1_Silent_p.R128R|FKTN_ENST00000357998.5_Silent_p.R128R|FKTN_ENST00000602661.1_Silent_p.R128R	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	128					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.R128R(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GCTGGTTTCGGATAGCTGAGA	0.408																																						uc004bcr.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(382-384)CGG>CGT		fukutin							87.0	88.0	87.0					9																	108366510		2203	4300	6503	SO:0001819	synonymous_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108366510G>T		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.384G>T	9.37:g.108366510G>T						FKTN_uc011lvx.1_Silent_p.R128R|FKTN_uc004bcs.2_Silent_p.R128R|FKTN_uc011lvy.1_Silent_p.R128R|FKTN_uc010mtm.2_5'UTR	p.R128R	NM_001079802	NP_001073270	O75072	FKTN_HUMAN			6	600	+			128			Lumenal (Potential).		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	37	c.384G>T	CCDS6766.1																																																																																				PASS	0.408	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		40	15	40	15	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117103887	117103887	+	Silent	SNP	C	C	T	rs370740104		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:117103887C>T	ENST00000307564.4	-	21	4154	c.3993G>A	c.(3991-3993)gcG>gcA	p.A1331A	AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Silent_p.A791A|AKNA_ENST00000374079.4_Silent_p.A276A|AKNA_ENST00000374075.5_Silent_p.A1250A|AKNA_ENST00000374088.3_Silent_p.A1331A	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1331					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.A1331A(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						GTGCTGGGGGCGCTGTTGCCA	0.617																																						uc004biq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(3991-3993)GCG>GCA		AT-hook transcription factor		C		1,4405	2.1+/-5.4	0,1,2202	54.0	60.0	58.0		3993	-6.0	0.0	9		58	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	AKNA	NM_030767.4		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		1331/1440	117103887	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117103887C>T	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.3993G>A	9.37:g.117103887C>T						AKNA_uc004bin.3_Silent_p.A578A|AKNA_uc004bio.3_Silent_p.A791A|AKNA_uc004bip.3_Silent_p.A1250A|AKNA_uc004bir.3_Silent_p.A1331A|AKNA_uc004bis.3_Silent_p.A1331A|AKNA_uc010mve.2_Silent_p.A1212A	p.A1331A	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			20	4128	-			1331					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.3993G>A	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	1.211	-0.629702	0.03610	2.27E-4	3.49E-4	ENSG00000106948	ENST00000320310	.	.	.	4.97	-5.98	0.02220	.	.	.	.	.	T	0.37598	0.1009	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	T	0.50808	-0.8784	5	0.87932	D	0	-5.3702	8.4091	0.32634	0.0:0.2997:0.1145:0.5858	.	.	.	.	H	342	.	ENSP00000314538:R342H	R	-	2	0	AKNA	116143708	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	-4.522000	0.00221	-1.479000	0.01867	-0.150000	0.13652	CGC		PASS	0.617	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		13	39	13	39	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117846600	117846600	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:117846600G>C	ENST00000350763.4	-	4	2430	c.2019C>G	c.(2017-2019)gaC>gaG	p.D673E	TNC_ENST00000340094.3_Missense_Mutation_p.D673E|TNC_ENST00000423613.2_Missense_Mutation_p.D673E|TNC_ENST00000542877.1_Missense_Mutation_p.D673E|TNC_ENST00000345230.3_Missense_Mutation_p.D673E|TNC_ENST00000535648.1_Missense_Mutation_p.D673E|TNC_ENST00000346706.3_Missense_Mutation_p.D673E|TNC_ENST00000537320.1_Missense_Mutation_p.D673E|TNC_ENST00000341037.4_Missense_Mutation_p.D673E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	673	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.D673E(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGACGTCTGGTCCCCAGGCA	0.567																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(2017-2019)GAC>GAG		tenascin C precursor							119.0	109.0	112.0					9																	117846600		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117846600G>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2019C>G	9.37:g.117846600G>C	ENSP00000265131:p.Asp673Glu					TNC_uc010mvf.2_Missense_Mutation_p.D673E	p.D673E	NM_002160	NP_002151	P24821	TENA_HUMAN			4	2381	-			673			Fibronectin type-III 1.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2019C>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750559	0.69533	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57436	3.55;0.4;3.55;0.4;0.4;0.4;0.4;0.4;0.4	5.93	3.13	0.36017	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.178247	0.64402	D	0.000016	T	0.48874	0.1524	L	0.35414	1.06	0.46149	D	0.998896	P;B	0.51537	0.946;0.258	P;B	0.50617	0.646;0.391	T	0.45731	-0.9241	10	0.48119	T	0.1	.	10.9515	0.47332	0.2012:0.0:0.7988:0.0	.	673;673	E9PC84;P24821	.;TENA_HUMAN	E	673	ENSP00000344400:D673E;ENSP00000438152:D673E;ENSP00000344555:D673E;ENSP00000345861:D673E;ENSP00000265131:D673E;ENSP00000339553:D673E;ENSP00000411406:D673E;ENSP00000443478:D673E;ENSP00000442242:D673E	ENSP00000344400:D673E	D	-	3	2	TNC	116886421	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.573000	0.46007	0.853000	0.35312	0.655000	0.94253	GAC		PASS	0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		27	18	27	18	---	---	---	---
LHX2	9355	broad.mit.edu	37	9	126783547	126783547	+	Silent	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:126783547C>G	ENST00000373615.4	+	4	1636	c.897C>G	c.(895-897)ctC>ctG	p.L299L		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	299					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.L299L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TGAAGCAGCTCGCGCAAAAGA	0.622																																						uc004boe.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(895-897)CTC>CTG		LIM homeobox protein 2							69.0	62.0	64.0					9																	126783547		2203	4300	6503	SO:0001819	synonymous_variant	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126783547C>G	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.897C>G	9.37:g.126783547C>G						LHX2_uc010mwi.1_Silent_p.L307L	p.L299L	NM_004789	NP_004780	P50458	LHX2_HUMAN			4	1636	+			299			Homeobox.		O95860|Q52M57|Q8N1Z3	Silent	SNP	ENST00000373615.4	37	c.897C>G	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166720	0.21621	.	.	ENSG00000106689	ENST00000446480	.	.	.	5.16	-2.46	0.06461	.	.	.	.	.	T	0.37785	0.1016	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32666	-0.9898	4	.	.	.	.	0.2649	0.00223	0.225:0.2684:0.2382:0.2684	.	.	.	.	G	305	.	.	R	+	1	0	LHX2	125823368	0.000000	0.05858	0.990000	0.47175	0.998000	0.95712	-2.367000	0.01078	-0.434000	0.07275	0.561000	0.74099	CGC		PASS	0.622	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			23	6	23	6	---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129458164	129458164	+	Silent	SNP	G	G	T	rs145052881		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:129458164G>T	ENST00000373474.4	+	7	940	c.933G>T	c.(931-933)ccG>ccT	p.P311P	LMX1B_ENST00000526117.1_Silent_p.P311P|LMX1B_ENST00000355497.5_Silent_p.P322P|LMX1B_ENST00000425646.2_Silent_p.P288P|LMX1B_ENST00000561065.1_Silent_p.P299P			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	311					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P322P(1)|p.P288P(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CCTACACGCCGCTGGCCCCAC	0.677									Nail-Patella Syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		9437	0.0		0.0	False		,,,				2504	0.0				Pancreas(110;1796 2278 18357 20466)	uc004bqj.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(862-864)CCG>CCT		LIM homeobox transcription factor 1, beta		G	,,	2,4404	4.2+/-10.8	0,2,2201	63.0	50.0	54.0		966,933,933	-2.2	1.0	9	dbSNP_134	54	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	LMX1B	NM_001174146.1,NM_001174147.1,NM_002316.3	,,	0,5,6497	TT,TG,GG		0.0349,0.0454,0.0384	,,	322/407,311/403,311/396	129458164	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	4010	Nail-Patella_Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129458164G>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.933G>T	9.37:g.129458164G>T						LMX1B_uc004bqi.2_Silent_p.P288P|LMX1B_uc011maa.1_Silent_p.P299P	p.P288P	NM_002316	NP_002307	O60663	LMX1B_HUMAN			7	914	+			288					F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.864G>T	CCDS55342.1																																																																																				PASS	0.677	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			23	6	23	6	---	---	---	---
FAM129B	64855	broad.mit.edu	37	9	130293981	130293981	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:130293981C>T	ENST00000373312.3	-	2	345	c.132G>A	c.(130-132)atG>atA	p.M44I	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.M31I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	44					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M44I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCTCATGGCGCATGCTGTTGA	0.582																																						uc004brh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)ATG>ATA		hypothetical protein LOC64855 isoform 1							83.0	76.0	79.0					9																	130293981		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130293981C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.132G>A	9.37:g.130293981C>T	ENSP00000362409:p.Met44Ile					FAM129B_uc004bri.2_Missense_Mutation_p.M31I|FAM129B_uc004brj.3_Missense_Mutation_p.M44I	p.M44I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			2	334	-			44					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.132G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	c	12.99	2.104826	0.37145	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.19394	2.25;2.15	4.88	4.88	0.63580	.	0.174374	0.51477	D	0.000096	T	0.16557	0.0398	L	0.38531	1.155	0.35107	D	0.765773	B;B	0.13594	0.008;0.008	B;B	0.14023	0.01;0.01	T	0.11690	-1.0577	10	0.27082	T	0.32	-54.1055	11.2819	0.49199	0.0:0.8158:0.1842:0.0	.	31;44	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	I	31;44	ENSP00000362411:M31I;ENSP00000362409:M44I	ENSP00000362409:M44I	M	-	3	0	FAM129B	129333802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.050000	0.30404	2.539000	0.85634	0.556000	0.70494	ATG		PASS	0.582	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		54	15	54	15	---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131568188	131568188	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:131568188G>T	ENST00000372648.5	+	10	1119	c.969G>T	c.(967-969)ctG>ctT	p.L323L	TBC1D13_ENST00000223865.8_Silent_p.L198L|TBC1D13_ENST00000539497.1_Silent_p.L142L	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	323	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.L323L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						GGCTGACACTGCTGCTGTCCC	0.607																																						uc010myj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(967-969)CTG>CTT		TBC1 domain family, member 13							104.0	74.0	84.0					9																	131568188		2203	4300	6503	SO:0001819	synonymous_variant	54662					intracellular	Rab GTPase activator activity	g.chr9:131568188G>T	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.969G>T	9.37:g.131568188G>T						TBC1D13_uc010myk.2_Silent_p.L198L|TBC1D13_uc010myl.2_Silent_p.L142L	p.L323L	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN			10	1092	+			323			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Silent	SNP	ENST00000372648.5	37	c.969G>T	CCDS6911.1																																																																																				PASS	0.607	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		16	8	16	8	---	---	---	---
PRRC2B	84726	broad.mit.edu	37	9	134351810	134351810	+	Missense_Mutation	SNP	A	A	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:134351810A>C	ENST00000357304.4	+	15	4349	c.4294A>C	c.(4294-4296)Agc>Cgc	p.S1432R	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1432							poly(A) RNA binding (GO:0044822)	p.S1432R(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGACAGACAGAGCCGAAAGCT	0.607											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004can.3																			2	Substitution - Missense(2)		lung(2)		0						c.(4294-4296)AGC>CGC		HLA-B associated transcript 2-like							17.0	19.0	18.0					9																	134351810		1941	4124	6065	SO:0001583	missense	84726						protein binding	g.chr9:134351810A>C	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4294A>C	9.37:g.134351810A>C	ENSP00000349856:p.Ser1432Arg		OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	BAT2L1_uc010mzj.1_Missense_Mutation_p.S1015R|BAT2L1_uc004cao.3_Missense_Mutation_p.S790R	p.S1432R	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			15	4349	+			1432					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.4294A>C	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.160305|4.160305	0.78226|0.78226	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000357304;ENST00000418650	.|T	.|0.02032	.|4.49	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|T	0.08044|0.08044	0.0201|0.0201	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63046	.|0.992;0.977;0.961	.|P;P;P	.|0.62813	.|0.907;0.787;0.541	T|T	0.05241|0.05241	-1.0897|-1.0897	5|9	.|0.87932	.|D	.|0	.|.	15.5609|15.5609	0.76244|0.76244	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|728;165;1432	.|Q5H9R5;Q5JSZ8;Q5JSZ5	.|.;.;PRC2B_HUMAN	A|R	165|1432;728	.|ENSP00000349856:S1432R	.|ENSP00000349856:S1432R	E|S	+|+	2|1	0|0	PRRC2B|PRRC2B	133341631|133341631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.962000|8.962000	0.93254|0.93254	2.271000|2.271000	0.75665|0.75665	0.533000|0.533000	0.62120|0.62120	GAG|AGC		PASS	0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	3	6	3	---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135863634	135863634	+	Missense_Mutation	SNP	G	G	T	rs145562579	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:135863634G>T	ENST00000339463.3	+	8	1108	c.289G>T	c.(289-291)Gac>Tac	p.D97Y	GFI1B_ENST00000372123.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000372122.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000534944.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000450530.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000372124.1_Missense_Mutation_p.D97Y			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	97	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.D97Y(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCACTGTCCGACTCACCCCC	0.587																																						uc004ccg.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(289-291)GAC>TAC		growth factor independent 1B transcription							109.0	94.0	99.0					9																	135863634		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135863634G>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.289G>T	9.37:g.135863634G>T	ENSP00000344782:p.Asp97Tyr					GFI1B_uc010mzy.2_Missense_Mutation_p.D97Y	p.D97Y	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	4	440	+			97			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.289G>T	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526992	0.44969	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.09255	3.14;3.0;3.0;3.14;3.14;3.0	4.6	3.69	0.42338	.	0.710545	0.13222	N	0.404314	T	0.08626	0.0214	L	0.36672	1.1	0.23150	N	0.998214	P;B	0.34864	0.473;0.086	B;B	0.31101	0.124;0.038	T	0.19095	-1.0316	10	0.59425	D	0.04	-26.2484	7.6508	0.28348	0.1146:0.0:0.8854:0.0	.	97;97	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	Y	97	ENSP00000361197:D97Y;ENSP00000344782:D97Y;ENSP00000409546:D97Y;ENSP00000446134:D97Y;ENSP00000361196:D97Y;ENSP00000361195:D97Y	ENSP00000344782:D97Y	D	+	1	0	GFI1B	134853455	0.967000	0.33354	0.884000	0.34674	0.953000	0.61014	2.544000	0.45761	2.075000	0.62263	0.563000	0.77884	GAC		PASS	0.587	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		20	24	20	24	---	---	---	---
STKLD1	169436	broad.mit.edu	37	9	136259504	136259504	+	Missense_Mutation	SNP	A	A	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:136259504A>C	ENST00000371957.3	+	8	777	c.670A>C	c.(670-672)Att>Ctt	p.I224L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.I224L(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGCTGCATCATTCTGGACAT	0.587																																						uc004cdk.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)|central_nervous_system(2)	4						c.(670-672)ATT>CTT		hypothetical protein LOC169436							175.0	155.0	162.0					9																	136259504		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136259504A>C																												ENST00000371957.3:c.670A>C	9.37:g.136259504A>C	ENSP00000361025:p.Ile224Leu					C9orf96_uc004cdl.2_RNA	p.I224L	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	8	731	+			224			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.670A>C	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	A	5.244	0.230533	0.09969	.	.	ENSG00000198870	ENST00000371957	T	0.13307	2.6	4.67	-3.07	0.05363	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.672832	0.13224	N	0.404179	T	0.03959	0.0111	N	0.05306	-0.075	0.54753	D	0.999987	B	0.06786	0.001	B	0.12156	0.007	T	0.47142	-0.9140	10	0.02654	T	1	-4.8248	5.4628	0.16626	0.3729:0.4435:0.1836:0.0	.	224	Q8NE28	SGK71_HUMAN	L	224	ENSP00000361025:I224L	ENSP00000361025:I224L	I	+	1	0	C9orf96	135249325	0.996000	0.38824	0.257000	0.24404	0.871000	0.50021	0.771000	0.26633	-0.444000	0.07170	-0.609000	0.04063	ATT		PASS	0.587	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			9	76	9	76	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136305595	136305595	+	Silent	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr9:136305595C>G	ENST00000371929.3	+	16	2361	c.1917C>G	c.(1915-1917)cgC>cgG	p.R639R	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.R608R|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.R639R|ADAMTS13_ENST00000536611.1_Silent_p.R311R	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	639	Spacer.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R639R(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCTGCCCCGCCTGGAGGAGA	0.647																																						uc004cdv.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(1915-1917)CGC>CGG		ADAM metallopeptidase with thrombospondin type 1							41.0	36.0	38.0					9																	136305595		2203	4300	6503	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136305595C>G	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1917C>G	9.37:g.136305595C>G						ADAMTS13_uc004cdp.3_Missense_Mutation_p.A17G|ADAMTS13_uc004cdt.1_Silent_p.R639R|ADAMTS13_uc004cdu.1_Silent_p.R608R|ADAMTS13_uc004cdw.3_Silent_p.R639R|ADAMTS13_uc004cdx.3_Silent_p.R608R|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Silent_p.R309R|ADAMTS13_uc004cds.1_Silent_p.R164R|ADAMTS13_uc004cdr.1_RNA	p.R639R	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	16	2361	+			639			Spacer.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.1917C>G	CCDS6970.1																																																																																				PASS	0.647	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		6	19	6	19	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1421274	1421274	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:1421274G>T	ENST00000381312.1	-	2	507	c.182C>A	c.(181-183)aCc>aAc	p.T61N		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	61					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.T61N(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTTACTGAGGGTGTCGTCATC	0.512																																						uc009xhq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(181-183)ACC>AAC		adenosine deaminase, RNA-specific, B2							187.0	171.0	177.0					10																	1421274		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1421274G>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.182C>A	10.37:g.1421274G>T	ENSP00000370713:p.Thr61Asn						p.T61N	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	2	556	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	61					B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.182C>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.131412	0.00338	.	.	ENSG00000185736	ENST00000381312	T	0.18657	2.2	4.64	0.93	0.19454	.	0.324637	0.37178	N	0.002209	T	0.03695	0.0105	N	0.00554	-1.385	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40905	-0.9538	10	0.02654	T	1	-8.7166	4.8696	0.13625	0.0:0.1707:0.3273:0.502	.	61	Q9NS39	RED2_HUMAN	N	61	ENSP00000370713:T61N	ENSP00000370713:T61N	T	-	2	0	ADARB2	1411274	0.996000	0.38824	0.847000	0.33407	0.092000	0.18411	0.241000	0.18065	-0.026000	0.13895	0.313000	0.20887	ACC		PASS	0.512	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		26	6	26	6	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12046643	12046643	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:12046643C>A	ENST00000356352.2	-	4	1863	c.1390G>T	c.(1390-1392)Gct>Tct	p.A464S	UPF2_ENST00000357604.5_Missense_Mutation_p.A464S|UPF2_ENST00000397053.2_Missense_Mutation_p.A464S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	464					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.A464S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AAATTCCGAGCATCTTCATCT	0.363																																						uc001ila.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1390-1392)GCT>TCT		UPF2 regulator of nonsense transcripts homolog							116.0	107.0	110.0					10																	12046643		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12046643C>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1390G>T	10.37:g.12046643C>A	ENSP00000348708:p.Ala464Ser					UPF2_uc001ilb.2_Missense_Mutation_p.A464S|UPF2_uc001ilc.2_Missense_Mutation_p.A464S|UPF2_uc009xiz.1_Missense_Mutation_p.A464S	p.A464S	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			4	1864	-		Renal(717;0.228)	464					A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.1390G>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271058	0.59540	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.41400	1.0;1.0;1.0	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.28274	0.84	0.80722	D	1	P;P	0.39216	0.571;0.664	B;B	0.36808	0.233;0.115	T	0.05649	-1.0872	10	0.19590	T	0.45	.	19.0304	0.92953	0.0:1.0:0.0:0.0	.	434;464	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	S	464;464;434;464;434	ENSP00000348708:A464S;ENSP00000350221:A464S;ENSP00000380244:A464S	ENSP00000313617:A434S	A	-	1	0	UPF2	12086649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.875000	0.69660	2.508000	0.84585	0.563000	0.77884	GCT		PASS	0.363	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			53	8	53	8	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	22002759	22002759	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:22002759A>G	ENST00000307729.7	+	14	1936	c.1758A>G	c.(1756-1758)ggA>ggG	p.G586G	MLLT10_ENST00000377072.3_Silent_p.G602G|MLLT10_ENST00000377059.3_Silent_p.G586G|MLLT10_ENST00000446906.2_Silent_p.G586G			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	586	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G602G(1)|p.G586G(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTGGCTCGGGATCTAGTACTC	0.433			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Substitution - coding silent(2)		lung(2)	lung(1)|skin(1)	2						c.(1804-1806)GGA>GGG		myeloid/lymphoid or mixed-lineage leukemia							134.0	128.0	130.0					10																	22002759		2203	4300	6503	SO:0001819	synonymous_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22002759A>G	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1758A>G	10.37:g.22002759A>G						MLLT10_uc001iqt.2_Silent_p.G586G|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.G586G|MLLT10_uc001ira.2_Silent_p.G43G|MLLT10_uc001irb.2_RNA	p.G602G	NM_004641	NP_004632	P55197	AF10_HUMAN			15	2154	+			602			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	c.1806A>G	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494763	0.26774	.	.	ENSG00000078403	ENST00000420525	.	.	.	5.79	0.312	0.15837	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	8.5206	0.33273	0.4828:0.3919:0.0:0.1253	.	.	.	.	G	149	.	.	D	+	2	0	MLLT10	22042765	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	0.988000	0.29616	-0.189000	0.10482	0.460000	0.39030	GAT		PASS	0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			28	16	28	16	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26789940	26789941	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:26789940_26789941CC>AA	ENST00000376236.4	+	5	808_809	c.353_354CC>AA	c.(352-354)gCC>gAA	p.A118E	APBB1IP_ENST00000356785.4_Missense_Mutation_p.A118E	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	118					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.A118D(1)|p.A118E(1)|p.A118A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATGTTGCTGCCACTGGTATCA	0.49																																						uc001iss.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(352-354)GCC>GAC|c.(352-354)GCC>GCA		amyloid beta (A4) precursor protein-binding,																																				SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26789940C>A|g.chr10:26789941C>A	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	Exception_encountered	10.37:g.26789940_26789941delinsAA	ENSP00000365411:p.Ala118Glu					APBB1IP_uc001isr.2_Missense_Mutation_p.A118D|APBB1IP_uc009xks.1_Missense_Mutation_p.A118D|APBB1IP_uc001isr.2_Silent_p.A118A|APBB1IP_uc009xks.1_Silent_p.A118A	p.A118D|p.A118A	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			5	674|675	+			118					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation|Silent	SNP	ENST00000376236.4	37	c.353C>A|c.354C>A	CCDS31167.1																																																																																				PASS	0.490	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		102|99	28	99	28	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38344973	38344973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:38344973G>T	ENST00000458705.2	+	5	2076	c.1918G>T	c.(1918-1920)Gag>Tag	p.E640*	ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E640*|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E647*|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Nonsense_Mutation_p.E641*			Q06730	ZN33A_HUMAN	zinc finger protein 33A	640					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.E640*(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TAAATGTAATGAGTGTGGAAA	0.378																																						uc001izh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1918-1920)GAG>TAG		zinc finger protein 33A isoform b							90.0	94.0	93.0					10																	38344973		2203	4300	6503	SO:0001587	stop_gained	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344973G>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.1918G>T	10.37:g.38344973G>T	ENSP00000387713:p.Glu640*					ZNF33A_uc001izg.2_Nonsense_Mutation_p.E641*|ZNF33A_uc010qev.1_Nonsense_Mutation_p.E647*|ZNF33A_uc001izi.1_Intron	p.E640*	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2096	+			640			C2H2-type 12.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Nonsense_Mutation	SNP	ENST00000458705.2	37	c.1918G>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351635	0.61183	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	.	.	.	1.69	1.69	0.24217	.	0.234181	0.21823	N	0.068594	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.8982	0.35479	0.0:0.0:1.0:0.0	.	.	.	.	X	641;647;640;640	.	ENSP00000304268:E640X	E	+	1	0	ZNF33A	38384979	0.000000	0.05858	0.750000	0.31169	0.534000	0.34807	0.601000	0.24119	0.902000	0.36520	0.313000	0.20887	GAG		PASS	0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		36	25	36	25	---	---	---	---
ZNF488	118738	broad.mit.edu	37	10	48370984	48370984	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:48370984G>T	ENST00000395702.2	+	2	679	c.452G>T	c.(451-453)tGg>tTg	p.W151L	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.W44L			Q96MN9	ZN488_HUMAN	zinc finger protein 488	151					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.W151L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TTCTCTGTGTGGCCCAGCGGA	0.602																																						uc001jex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(451-453)TGG>TTG		zinc finger protein 488							53.0	52.0	52.0					10																	48370984		2203	4300	6503	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48370984G>T	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.452G>T	10.37:g.48370984G>T	ENSP00000379054:p.Trp151Leu					ZNF488_uc001jey.2_Missense_Mutation_p.W44L	p.W151L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN			2	614	+			151					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.452G>T	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	g	10.03	1.238844	0.22711	.	.	ENSG00000165388	ENST00000395702	T	0.21543	2.0	5.45	5.45	0.79879	.	0.331491	0.29040	U	0.013332	T	0.21427	0.0516	M	0.61703	1.905	0.27233	N	0.959355	B	0.29988	0.264	B	0.20577	0.03	T	0.12091	-1.0561	10	0.41790	T	0.15	.	11.7036	0.51585	0.0805:0.0:0.9195:0.0	.	151	Q96MN9	ZN488_HUMAN	L	151	ENSP00000379054:W151L	ENSP00000379054:W151L	W	+	2	0	ZNF488	47990990	1.000000	0.71417	0.518000	0.27811	0.551000	0.35334	3.485000	0.53208	2.562000	0.86427	0.486000	0.48141	TGG		PASS	0.602	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		6	19	6	19	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50944083	50944083	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:50944083G>T	ENST00000374103.4	-	22	2980	c.2895C>A	c.(2893-2895)cgC>cgA	p.R965R	OGDHL_ENST00000432695.1_Silent_p.R756R|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.R908R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	965					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R965R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGGCCGTGCGCGCCTCAGGA	0.607																																						uc001jie.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(2893-2895)CGC>CGA		oxoglutarate dehydrogenase-like isoform a							82.0	71.0	74.0					10																	50944083		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50944083G>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2895C>A	10.37:g.50944083G>T						OGDHL_uc009xog.2_Silent_p.R992R|OGDHL_uc010qgt.1_Silent_p.R908R|OGDHL_uc010qgu.1_Silent_p.R756R	p.R965R	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			22	3037	-			965					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.2895C>A	CCDS7234.1																																																																																				PASS	0.607	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		11	20	11	20	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68040354	68040354	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:68040354C>A	ENST00000433211.2	-	13	1932	c.1758G>T	c.(1756-1758)gtG>gtT	p.V586V	CTNNA3_ENST00000373744.4_Silent_p.V586V	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.V586V(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGGCAACATTCACTTGTGTTA	0.318																																						uc009xpn.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1756-1758)GTG>GTT		catenin, alpha 3							101.0	99.0	100.0					10																	68040354		2203	4299	6502	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68040354C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1758G>T	10.37:g.68040354C>A						CTNNA3_uc001jmw.2_Silent_p.V586V	p.V586V	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			13	1881	-			586						Silent	SNP	ENST00000433211.2	37	c.1758G>T	CCDS7269.1																																																																																				PASS	0.318	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		19	56	19	56	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69881370	69881370	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:69881370G>T	ENST00000358913.5	+	2	663	c.175G>T	c.(175-177)Gac>Tac	p.D59Y	MYPN_ENST00000373675.3_Missense_Mutation_p.D59Y|MYPN_ENST00000540630.1_Missense_Mutation_p.D59Y|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	59	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.D59Y(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGGCCAAGATGACCTTCCAGA	0.532																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(175-177)GAC>TAC		myopalladin							56.0	55.0	55.0					10																	69881370		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881370G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.175G>T	10.37:g.69881370G>T	ENSP00000351790:p.Asp59Tyr					MYPN_uc001jnl.1_Missense_Mutation_p.D59Y|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.D59Y|MYPN_uc001jnp.1_Missense_Mutation_p.D59Y|MYPN_uc009xps.2_Missense_Mutation_p.D59Y|MYPN_uc009xpt.2_Missense_Mutation_p.D59Y|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	p.D59Y	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			3	360	+			59			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.175G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824010	0.71143	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.63744	0.37;0.35;-0.06	5.5	5.5	0.81552	.	0.098408	0.64402	D	0.000002	T	0.75019	0.3793	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71870	0.975;0.945	T	0.71401	-0.4604	9	.	.	.	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	59;59	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	Y	59	ENSP00000351790:D59Y;ENSP00000441668:D59Y;ENSP00000362779:D59Y	.	D	+	1	0	MYPN	69551376	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.342000	0.90049	2.861000	0.98227	0.655000	0.94253	GAC		PASS	0.532	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		30	40	30	40	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69908132	69908132	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:69908132T>C	ENST00000358913.5	+	5	1641	c.1153T>C	c.(1153-1155)Tca>Cca	p.S385P	MYPN_ENST00000373675.3_Missense_Mutation_p.S385P|MYPN_ENST00000540630.1_Missense_Mutation_p.S385P|MYPN_ENST00000354393.2_Missense_Mutation_p.S110P	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	385	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.S385P(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAATGAGGTGTCATCTCCTCC	0.418																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1153-1155)TCA>CCA		myopalladin							86.0	83.0	84.0					10																	69908132		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69908132T>C	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1153T>C	10.37:g.69908132T>C	ENSP00000351790:p.Ser385Pro					MYPN_uc001jnl.1_Missense_Mutation_p.S385P|MYPN_uc001jnn.3_Missense_Mutation_p.S110P|MYPN_uc001jno.3_Missense_Mutation_p.S385P|MYPN_uc001jnp.1_Missense_Mutation_p.S385P|MYPN_uc009xps.2_Missense_Mutation_p.S385P|MYPN_uc009xpt.2_Missense_Mutation_p.S385P|MYPN_uc010qit.1_Missense_Mutation_p.S91P|MYPN_uc010qiu.1_RNA	p.S385P	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			6	1338	+			385			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1153T>C	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.412114	0.42817	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.63913	0.27;0.28;0.25;-0.07	5.75	3.37	0.38596	.	0.473455	0.22495	N	0.059315	T	0.48205	0.1487	L	0.44542	1.39	0.24435	N	0.994558	B;B;B;B	0.17268	0.021;0.001;0.01;0.006	B;B;B;B	0.16722	0.013;0.003;0.016;0.006	T	0.33163	-0.9879	9	.	.	.	.	5.5933	0.17313	0.0:0.0878:0.1736:0.7386	.	385;385;110;385	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	P	110;110;385;385;385	ENSP00000346369:S110P;ENSP00000351790:S385P;ENSP00000441668:S385P;ENSP00000362779:S385P	.	S	+	1	0	MYPN	69578138	0.606000	0.26949	0.171000	0.22900	0.990000	0.78478	0.335000	0.19806	0.430000	0.26230	0.533000	0.62120	TCA		PASS	0.418	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		3	77	3	77	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70426853	70426853	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:70426853C>T	ENST00000373644.4	+	7	4722	c.4513C>T	c.(4513-4515)Cgt>Tgt	p.R1505C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1505					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R1505C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTCCGGCAGCGTACAGGCCA	0.463																																						uc001jok.3																			2	Substitution - Missense(2)	p.R1505C(1)	ovary(1)|lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(4513-4515)CGT>TGT		CXXC finger 6							112.0	100.0	104.0					10																	70426853		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70426853C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4513C>T	10.37:g.70426853C>T	ENSP00000362748:p.Arg1505Cys						p.R1505C	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			7	5018	+			1505					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4513C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269285	0.80469	.	.	ENSG00000138336	ENST00000373644	T	0.42513	0.97	5.3	4.4	0.53042	TET cysteine-rich domain (1);	0.059737	0.64402	N	0.000007	T	0.64068	0.2565	M	0.75884	2.315	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.69143	-0.5223	10	0.87932	D	0	.	14.0874	0.64968	0.0:0.9274:0.0:0.0726	.	1505	Q8NFU7	TET1_HUMAN	C	1505	ENSP00000362748:R1505C	ENSP00000362748:R1505C	R	+	1	0	TET1	70096859	1.000000	0.71417	0.920000	0.36463	0.944000	0.59088	4.956000	0.63645	1.364000	0.46038	0.650000	0.86243	CGT		PASS	0.463	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		5	29	5	29	---	---	---	---
PANK1	53354	broad.mit.edu	37	10	91353613	91353613	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:91353613C>T	ENST00000307534.4	-	4	1599	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	PANK1_ENST00000322191.6_Intron|PANK1_ENST00000342512.3_Missense_Mutation_p.D257N|MIR107_ENST00000362127.1_RNA|PANK1_ENST00000371774.2_Missense_Mutation_p.D284N	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	482					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.D482N(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CGTTCATAGTCTCCTCCGTAA	0.468																																						uc001kgp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1444-1446)GAC>AAC		pantothenate kinase 1 isoform alpha	Bezafibrate(DB01393)						231.0	198.0	209.0					10																	91353613		2203	4300	6503	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91353613C>T	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1444G>A	10.37:g.91353613C>T	ENSP00000302108:p.Asp482Asn					PANK1_uc001kgn.1_Missense_Mutation_p.D257N|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Missense_Mutation_p.D284N|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	p.D482N	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN			4	1600	-			482					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.1444G>A	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226446	0.95173	.	.	ENSG00000152782	ENST00000342512;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D	0.99548	-6.14;-6.14;-6.14	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	M	0.74467	2.265	0.80722	D	1	P;D;P	0.76494	0.687;0.999;0.52	B;D;B	0.79784	0.186;0.993;0.186	D	0.99094	1.0841	10	0.48119	T	0.1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	284;482;257	Q8TE04-4;Q8TE04;Q8TE04-2	.;PANK1_HUMAN;.	N	257;284;482;345	ENSP00000345118:D257N;ENSP00000360839:D284N;ENSP00000302108:D482N	ENSP00000302108:D482N	D	-	1	0	PANK1	91343593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.468	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	116	6	116	---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91497668	91497668	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:91497668A>G	ENST00000371728.3	+	20	3135	c.3070A>G	c.(3070-3072)Aca>Gca	p.T1024A	KIF20B_ENST00000394289.2_Missense_Mutation_p.T1024A|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.T1054A|KIF20B_ENST00000260753.4_Missense_Mutation_p.T984A	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1024					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.T984A(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTTGCCAAATACACAGTTAGA	0.348																																						uc001kgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3070-3072)ACA>GCA		M-phase phosphoprotein 1							70.0	78.0	75.0					10																	91497668		2203	4297	6500	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91497668A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3070A>G	10.37:g.91497668A>G	ENSP00000360793:p.Thr1024Ala					KIF20B_uc001kgr.1_Missense_Mutation_p.T984A|KIF20B_uc001kgt.1_Missense_Mutation_p.T235A|KIF20B_uc009xtw.1_RNA	p.T1024A	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			20	3142	+			1024					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.3070A>G		.	.	.	.	.	.	.	.	.	.	A	10.56	1.384453	0.25031	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.68479	-0.26;-0.27;-0.33;-0.26	5.32	4.16	0.48862	.	0.128667	0.35436	N	0.003204	T	0.70919	0.3279	L	0.57536	1.79	0.09310	N	1	D;B	0.64830	0.994;0.23	D;B	0.70716	0.97;0.058	T	0.59375	-0.7466	10	0.11794	T	0.64	-13.0621	5.4347	0.16474	0.5435:0.0:0.0726:0.3839	.	1024;984	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	A	984;1054;1024;1024	ENSP00000260753:T984A;ENSP00000411545:T1054A;ENSP00000377830:T1024A;ENSP00000360793:T1024A	ENSP00000260753:T984A	T	+	1	0	KIF20B	91487648	0.001000	0.12720	0.021000	0.16686	0.498000	0.33706	1.372000	0.34261	0.820000	0.34516	0.482000	0.46254	ACA		PASS	0.348	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		43	80	43	80	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93244288	93244288	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:93244288A>G	ENST00000298068.5	+	9	940	c.846A>G	c.(844-846)caA>caG	p.Q282Q	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000446394.1_Silent_p.Q286Q	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	282					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q282Q(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGTTCAAACAATTGGTAGAGA	0.338																																					NSCLC(12;376 469 1699 39910 41417)	uc001khl.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(844-846)CAA>CAG		HECT domain containing 2 isoform a							90.0	90.0	90.0					10																	93244288		2203	4300	6503	SO:0001819	synonymous_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93244288A>G	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.846A>G	10.37:g.93244288A>G						LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Silent_p.Q286Q|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	p.Q282Q	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN			9	946	+			282					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Silent	SNP	ENST00000298068.5	37	c.846A>G	CCDS7414.1																																																																																				PASS	0.338	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			43	18	43	18	---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95126238	95126239	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:95126238_95126239GA>AC	ENST00000359263.4	-	26	2662_2663	c.2663_2664TC>GT	c.(2662-2664)gTC>gGT	p.V888G	MYOF_ENST00000371501.4_Missense_Mutation_p.V888G|MYOF_ENST00000371502.4_Missense_Mutation_p.V888G|MYOF_ENST00000358334.5_Missense_Mutation_p.V875G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	888					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.V888G(2)|p.V888V(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTTTCCTGTGACATCAGAAAA	0.376																																						uc001kin.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|breast(1)	4						c.(2662-2664)GTC>GTT|c.(2662-2664)GTC>GGC		myoferlin isoform a																																				SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95126238G>A|g.chr10:95126239A>C	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2663_2664delinsAC	10.37:g.95126238_95126239delinsAC	ENSP00000352208:p.Val888Gly					MYOF_uc001kio.2_Silent_p.V875V|MYOF_uc009xue.2_RNA|MYOF_uc001kio.2_Missense_Mutation_p.V875G|MYOF_uc009xue.2_RNA	p.V888V|p.V888G	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			26	2787|2786	-			888			Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent|Missense_Mutation	SNP	ENST00000359263.4	37	c.2664C>T|c.2663T>G	CCDS41551.1																																																																																				PASS	0.376	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		34|33	66	33	66	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106974319	106974319	+	Missense_Mutation	SNP	G	G	T	rs202092284		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:106974319G>T	ENST00000369701.3	+	18	2722	c.2495G>T	c.(2494-2496)cGg>cTg	p.R832L	SORCS3_ENST00000369699.4_Missense_Mutation_p.R118L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	832	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R832L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACCGATGGGCGGCTGGTGGCA	0.582																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2494-2496)CGG>CTG		VPS10 domain receptor protein SORCS 3 precursor							53.0	47.0	49.0					10																	106974319		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974319G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2495G>T	10.37:g.106974319G>T	ENSP00000358715:p.Arg832Leu					SORCS3_uc010qqz.1_RNA	p.R832L	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2722	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	832			PKD.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2495G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.994917	0.74703	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.61158	0.13;0.13	5.89	4.99	0.66335	PKD domain (2);	0.202216	0.44097	D	0.000490	T	0.36880	0.0983	N	0.08118	0	0.38235	D	0.94115	B	0.33964	0.434	B	0.39738	0.308	T	0.34054	-0.9844	9	.	.	.	.	7.1795	0.25763	0.2805:0.0:0.7195:0.0	.	832	Q9UPU3	SORC3_HUMAN	L	832;118	ENSP00000358715:R832L;ENSP00000358713:R118L	.	R	+	2	0	SORCS3	106964309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.233000	0.78125	1.500000	0.48636	0.558000	0.71614	CGG		PASS	0.582	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		21	11	21	11	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120801850	120801850	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:120801850C>A	ENST00000369144.3	-	19	3309	c.3182G>T	c.(3181-3183)cGt>cTt	p.R1061L	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1027L	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R1061L(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCAGCATTACGCCAGGATGA	0.622																																						uc001ldu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3181-3183)CGT>CTT		eukaryotic translation initiation factor 3,							228.0	193.0	205.0					10																	120801850		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801850C>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3182G>T	10.37:g.120801850C>A	ENSP00000358140:p.Arg1061Leu					EIF3A_uc010qsu.1_Missense_Mutation_p.R1027L|EIF3A_uc009xzg.1_Missense_Mutation_p.R100L	p.R1061L	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3328	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1061			14.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3182G>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762401	0.69763	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.32753	1.5;1.44	5.41	5.41	0.78517	.	0.000000	0.39210	N	0.001421	T	0.52451	0.1735	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.75484	0.986;0.866	T	0.50268	-0.8848	10	0.72032	D	0.01	-14.6925	19.3887	0.94570	0.0:1.0:0.0:0.0	.	1027;1061	F5H335;Q14152	.;EIF3A_HUMAN	L	1061;1027	ENSP00000358140:R1061L;ENSP00000438178:R1027L	ENSP00000358140:R1061L	R	-	2	0	EIF3A	120791840	1.000000	0.71417	0.969000	0.41365	0.413000	0.31143	6.618000	0.74214	2.826000	0.97356	0.655000	0.94253	CGT		PASS	0.622	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		82	38	82	38	---	---	---	---
FOXI2	399823	broad.mit.edu	37	10	129537212	129537212	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:129537212G>T	ENST00000388920.4	+	2	979	c.940G>T	c.(940-942)Gaa>Taa	p.E314*		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	314					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E130*(1)|p.E314*(1)		large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CTACAGCCGGGAAGGGACCGA	0.687																																					Esophageal Squamous(54;1038 1280 2528 31583)	uc009yas.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(940-942)GAA>TAA		forkhead box I2							12.0	16.0	14.0					10																	129537212		2153	4254	6407	SO:0001587	stop_gained	399823				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr10:129537212G>T	AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.940G>T	10.37:g.129537212G>T	ENSP00000373572:p.Glu314*					uc009yar.1_5'Flank	p.E314*	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN			2	940	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	314						Nonsense_Mutation	SNP	ENST00000388920.4	37	c.940G>T	CCDS7655.2	.	.	.	.	.	.	.	.	.	.	G	32	5.175784	0.94807	.	.	ENSG00000186766	ENST00000388920	.	.	.	4.14	4.14	0.48551	.	0.347769	0.28665	N	0.014543	.	.	.	.	.	.	0.42803	D	0.993938	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9641	0.64199	0.0:0.0:1.0:0.0	.	.	.	.	X	314	.	ENSP00000373572:E314X	E	+	1	0	FOXI2	129427202	1.000000	0.71417	0.802000	0.32245	0.387000	0.30353	7.937000	0.87672	2.133000	0.65898	0.555000	0.69702	GAA		PASS	0.687	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426		5	6	5	6	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135112951	135112951	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:135112951T>A	ENST00000252936.3	-	3	475	c.436A>T	c.(436-438)Aca>Tca	p.T146S	TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.T16S|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.T146S|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.T146S			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	146					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.T146S(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)		GTGGAGCCTGTGGCCACGCTG	0.632																																						uc001lmg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)ACA>TCA		tubulin, gamma complex associated protein 2							49.0	41.0	44.0					10																	135112951		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.chr10:135112951T>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.436A>T	10.37:g.135112951T>A	ENSP00000252936:p.Thr146Ser					TUBGCP2_uc010qvc.1_Missense_Mutation_p.T146S|TUBGCP2_uc009ybk.1_Missense_Mutation_p.T146S|TUBGCP2_uc010qvd.1_Missense_Mutation_p.T16S|TUBGCP2_uc001lmh.1_RNA	p.T146S	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	793	-		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)	146					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.436A>T	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	T	8.158	0.788966	0.16258	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.16897	2.56;2.31;2.56;2.55	5.42	4.28	0.50868	.	0.412657	0.29239	N	0.012730	T	0.10294	0.0252	L	0.33485	1.01	0.27216	N	0.95977	B;B;B	0.13145	0.007;0.001;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.37709	-0.9694	10	0.02654	T	1	-14.252	8.4017	0.32590	0.0:0.1615:0.0:0.8385	.	146;146;146	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	S	146;16;146;146	ENSP00000252936:T146S;ENSP00000395666:T16S;ENSP00000357551:T146S;ENSP00000446093:T146S	ENSP00000252936:T146S	T	-	1	0	TUBGCP2	134962941	0.990000	0.36364	0.817000	0.32601	0.601000	0.36947	1.924000	0.40065	1.013000	0.39391	0.533000	0.62120	ACA		PASS	0.632	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			35	8	35	8	---	---	---	---
ECHS1	1892	broad.mit.edu	37	10	135179530	135179530	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr10:135179530G>A	ENST00000368547.3	-	6	1044	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	230					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)	p.A230V(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		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)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AGAATTGCTGGCAATTTTTTC	0.473																																					GBM(132;1720 1771 5373 10277 21402)	uc001lmu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(688-690)GCC>GTC		mitochondrial short-chain enoyl-coenzyme A							196.0	165.0	176.0					10																	135179530		2203	4300	6503	SO:0001583	missense	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135179530G>A		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.689C>T	10.37:g.135179530G>A	ENSP00000357535:p.Ala230Val						p.A230V	NM_004092	NP_004083	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	6	760	-		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)	230					O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	c.689C>T	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614808	0.87359	.	.	ENSG00000127884	ENST00000368547	T	0.52754	0.65	5.39	4.48	0.54585	.	0.107610	0.64402	D	0.000007	T	0.68668	0.3026	M	0.85859	2.78	0.58432	D	0.999992	D	0.76494	0.999	D	0.70487	0.969	T	0.73448	-0.3979	10	0.87932	D	0	.	10.6228	0.45489	0.0896:0.0:0.9104:0.0	.	230	P30084	ECHM_HUMAN	V	230	ENSP00000357535:A230V	ENSP00000357535:A230V	A	-	2	0	ECHS1	135029520	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.712000	0.84684	1.421000	0.47157	0.555000	0.69702	GCC		PASS	0.473	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			18	86	18	86	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1016835	1016835	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:1016835A>T	ENST00000421673.2	-	31	6016	c.5966T>A	c.(5965-5967)tTc>tAc	p.F1989Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1989	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.F1989Y(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)		GGTGGTCTGGAAGGATGTTGC	0.567																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5965-5967)TTC>TAC		mucin 6, gastric							1541.0	1526.0	1531.0					11																	1016835		2203	4299	6502	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016835A>T	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.5966T>A	11.37:g.1016835A>T	ENSP00000406861:p.Phe1989Tyr						p.F1989Y	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	6017	-		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)	1989			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5966T>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324009	0.41096	.	.	ENSG00000184956	ENST00000421673	T	0.18657	2.2	3.08	-0.788	0.10939	.	.	.	.	.	T	0.13927	0.0337	L	0.47716	1.5	0.09310	N	1	P	0.45126	0.851	B	0.38880	0.284	T	0.26360	-1.0105	9	0.13853	T	0.58	.	6.7728	0.23602	0.4725:0.0:0.5275:0.0	.	1989	Q6W4X9	MUC6_HUMAN	Y	1989	ENSP00000406861:F1989Y	ENSP00000406861:F1989Y	F	-	2	0	MUC6	1006835	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.386000	0.07370	-0.019000	0.14055	0.254000	0.18369	TTC		PASS	0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		16	663	16	663	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1271328	1271329	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:1271328_1271329CC>AA	ENST00000529681.1	+	31	13276_13277	c.13218_13219CC>AA	c.(13216-13221)ggCCcc>ggAAcc	p.P4407T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P4410T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4407	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P4407T(2)|p.P4362T(2)|p.G4361G(1)|p.G4406G(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)		CAGCCACTGGCCCCACGGCCAC	0.658																																						uc009ycr.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)		0						c.(14635-14637)GGC>GGA|c.(14638-14640)CCC>ACC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;																																				SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271328C>A|g.chr11:1271329C>A	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		Exception_encountered	11.37:g.1271328_1271329delinsAA	ENSP00000436812:p.Pro4407Thr					MUC5B_uc001ltb.2_Silent_p.G4409G|MUC5B_uc001ltb.2_Missense_Mutation_p.P4410T	p.G4879G|p.P4880T	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)	51	14763|14764	+		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)	4406|4407			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent|Missense_Mutation	SNP	ENST00000529681.1	37	c.14637C>A|c.14638C>A	CCDS44515.2																																																																																				PASS	0.658	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		27|25	11	25	11	---	---	---	---
TNNT3	7140	broad.mit.edu	37	11	1955670	1955670	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:1955670G>C	ENST00000397301.1	+	13	516	c.508G>C	c.(508-510)Gcc>Ccc	p.A170P	TNNT3_ENST00000278317.6_Missense_Mutation_p.A159P|TNNT3_ENST00000381549.3_Missense_Mutation_p.A151P|TNNT3_ENST00000446240.1_Missense_Mutation_p.A140P|TNNT3_ENST00000381579.3_Missense_Mutation_p.A151P|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381548.3_Missense_Mutation_p.A161P|TNNT3_ENST00000381558.1_Missense_Mutation_p.A151P|TNNT3_ENST00000397304.2_Missense_Mutation_p.A140P|TNNT3_ENST00000381589.3_Missense_Mutation_p.A157P|TNNT3_ENST00000360603.3_Missense_Mutation_p.A153P|TNNT3_ENST00000381561.4_Missense_Mutation_p.A162P			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	170					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.A159P(1)|p.A157P(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CAGCTACCTGGCCAAGGTGTG	0.622																																						uc001luu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(475-477)GCC>CCC		troponin T3, skeletal, fast isoform 1							83.0	74.0	77.0					11																	1955670		2202	4298	6500	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1955670G>C	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.508G>C	11.37:g.1955670G>C	ENSP00000380468:p.Ala170Pro					TNNT3_uc001lun.2_Missense_Mutation_p.A55P|TNNT3_uc001luw.3_Missense_Mutation_p.A151P|TNNT3_uc001luo.3_Missense_Mutation_p.A151P|TNNT3_uc001lup.3_Missense_Mutation_p.A157P|TNNT3_uc001luq.3_Missense_Mutation_p.A151P|TNNT3_uc001lur.2_Missense_Mutation_p.A151P|TNNT3_uc010qxf.1_Missense_Mutation_p.A157P|TNNT3_uc010qxg.1_Missense_Mutation_p.A91P	p.A159P	NM_006757	NP_006748	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	12	687	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	170					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.475G>C		.	.	.	.	.	.	.	.	.	.	.	17.34	3.365227	0.61513	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	4.66	3.75	0.43078	.	0.116942	0.64402	D	0.000018	D	0.83792	0.5331	L	0.60455	1.87	0.51233	D	0.999913	P;P;P;P;P	0.45126	0.82;0.82;0.82;0.82;0.851	P;P;P;P;P	0.53102	0.596;0.596;0.596;0.596;0.718	D	0.84772	0.0768	10	0.62326	D	0.03	-14.5991	13.3603	0.60652	0.0782:0.0:0.9218:0.0	.	159;151;157;151;170	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	P	159;55;171;162;161;153;151;157;151;145;140;162;146;151;170;140;140	ENSP00000278317:A159P;ENSP00000370973:A162P;ENSP00000370960:A161P;ENSP00000353815:A153P;ENSP00000370961:A151P;ENSP00000371001:A157P;ENSP00000370991:A151P;ENSP00000370969:A145P;ENSP00000415614:A140P;ENSP00000370975:A162P;ENSP00000344870:A146P;ENSP00000370970:A151P;ENSP00000380468:A170P;ENSP00000380471:A140P;ENSP00000413203:A140P	ENSP00000278317:A159P	A	+	1	0	TNNT3	1912246	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.175000	0.50855	1.094000	0.41399	0.313000	0.20887	GCC		PASS	0.622	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		19	4	19	4	---	---	---	---
OR52B4	143496	broad.mit.edu	37	11	4388922	4388922	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:4388922A>T	ENST00000408920.2	-	1	694	c.604T>A	c.(604-606)Ttt>Att	p.F202I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	202					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F202I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAATGGAAAACCCATACCAA	0.383																																						uc010qye.1																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)TTT>ATT		olfactory receptor, family 52, subfamily B,							77.0	75.0	76.0					11																	4388922		1891	4111	6002	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388922A>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.604T>A	11.37:g.4388922A>T	ENSP00000386160:p.Phe202Ile						p.F202I	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	604	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	202			Helical; Name=5; (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.604T>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	A	8.063	0.768563	0.15983	.	.	ENSG00000221996	ENST00000408920	T	0.00091	8.74	5.3	-7.2	0.01495	GPCR, rhodopsin-like superfamily (1);	1.010930	0.07944	N	0.979732	T	0.00109	0.0003	L	0.45581	1.43	0.09310	N	1	B	0.12630	0.006	B	0.20577	0.03	T	0.20840	-1.0263	10	0.56958	D	0.05	.	3.1415	0.06457	0.3002:0.2136:0.3813:0.1049	.	202	Q8NGK2	O52B4_HUMAN	I	202	ENSP00000386160:F202I	ENSP00000386160:F202I	F	-	1	0	OR52B4	4345498	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.756000	0.04777	-1.243000	0.02519	-0.313000	0.08912	TTT		PASS	0.383	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		37	11	37	11	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153566	5153566	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:5153566T>A	ENST00000307388.1	-	1	306	c.307A>T	c.(307-309)Atg>Ttg	p.M103L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	103					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M103L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATAAGCCACATTTGAAAAAGA	0.453																																						uc010qyx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(307-309)ATG>TTG		olfactory receptor, family 52, subfamily A,							59.0	54.0	55.0					11																	5153566		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153566T>A	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.307A>T	11.37:g.5153566T>A	ENSP00000303469:p.Met103Leu						p.M103L	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	307	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	103			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.307A>T	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221800	0.39300	.	.	ENSG00000171944	ENST00000307388	T	0.00374	7.72	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.00552	0.0018	L	0.33668	1.02	0.32226	N	0.574653	D	0.67145	0.996	D	0.77004	0.989	T	0.65228	-0.6219	10	0.87932	D	0	.	10.0011	0.41929	0.1514:0.0:0.0:0.8486	.	103	Q9H2C5	O52A5_HUMAN	L	103	ENSP00000303469:M103L	ENSP00000303469:M103L	M	-	1	0	OR52A5	5110142	0.999000	0.42202	1.000000	0.80357	0.139000	0.21198	1.081000	0.30791	2.186000	0.69663	0.533000	0.62120	ATG		PASS	0.453	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		24	7	24	7	---	---	---	---
OR51B5	282763	broad.mit.edu	37	11	5364332	5364332	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:5364332C>A	ENST00000300773.2	-	1	477	c.423G>T	c.(421-423)aaG>aaT	p.K141N	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	141					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K141N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCCCAATCTTCACTACTC	0.453																																						uc001map.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(421-423)AAG>AAT		olfactory receptor, family 51, subfamily B,							53.0	57.0	56.0					11																	5364332		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364332C>A	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.423G>T	11.37:g.5364332C>A	ENSP00000300773:p.Lys141Asn					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.K141N	p.K141N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	423	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	141			Helical; Name=4; (Potential).		B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.423G>T	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	C	6.873	0.530415	0.13127	.	.	ENSG00000242180	ENST00000300773	T	0.38240	1.15	4.76	0.423	0.16463	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000612	T	0.28797	0.0714	L	0.56124	1.755	0.09310	N	1	B	0.20459	0.045	B	0.26693	0.072	T	0.23226	-1.0194	10	0.54805	T	0.06	.	4.5423	0.12064	0.1453:0.5068:0.0:0.3479	.	141	Q9H339	O51B5_HUMAN	N	141	ENSP00000300773:K141N	ENSP00000300773:K141N	K	-	3	2	OR51B5	5320908	0.000000	0.05858	0.530000	0.27963	0.269000	0.26545	-0.529000	0.06186	0.165000	0.19558	0.650000	0.86243	AAG		PASS	0.453	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		41	16	41	16	---	---	---	---
OR52N1	79473	broad.mit.edu	37	11	5809645	5809645	+	Nonsense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:5809645A>T	ENST00000317078.1	-	1	401	c.402T>A	c.(400-402)taT>taA	p.Y134*	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y134*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGATGGTGGCATAACGCAGAG	0.527																																						uc010qzo.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(400-402)TAT>TAA		olfactory receptor, family 52, subfamily N,							146.0	125.0	132.0					11																	5809645		2201	4296	6497	SO:0001587	stop_gained	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809645A>T	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.402T>A	11.37:g.5809645A>T	ENSP00000322823:p.Tyr134*					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.Y134*	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	402	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	134			Cytoplasmic (Potential).		Q6IFF6	Nonsense_Mutation	SNP	ENST00000317078.1	37	c.402T>A	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161925	0.78226	.	.	ENSG00000181001	ENST00000317078	.	.	.	4.59	2.31	0.28768	.	0.000000	0.45361	D	0.000374	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9418	0.24496	0.7319:0.0:0.2681:0.0	.	.	.	.	X	134	.	ENSP00000322823:Y134X	Y	-	3	2	OR52N1	5766221	0.002000	0.14202	0.997000	0.53966	0.958000	0.62258	0.040000	0.13905	0.891000	0.36235	0.496000	0.49642	TAT		PASS	0.527	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		43	10	43	10	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023520	6023520	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:6023520C>T	ENST00000330728.4	-	1	904	c.859G>A	c.(859-861)Ggt>Agt	p.G287S		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G287S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		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)		GCCACAGCACCCTCGGCCTTG	0.498																																						uc010qzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(859-861)GGT>AGT		olfactory receptor, family 56, subfamily A,							66.0	59.0	62.0					11																	6023520		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023520C>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.859G>A	11.37:g.6023520C>T	ENSP00000328215:p.Gly287Ser						p.G287S	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	859	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	235			Cytoplasmic (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.859G>A	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204708	0.58234	.	.	ENSG00000183389	ENST00000330728	T	0.00044	8.83	3.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36234	U	0.002705	T	0.00328	0.0010	M	0.63169	1.94	0.18873	N	0.999987	P	0.49185	0.92	P	0.54924	0.764	T	0.53422	-0.8441	10	0.66056	D	0.02	.	14.3689	0.66826	0.0:1.0:0.0:0.0	.	235	Q8NGH8	O56A4_HUMAN	S	287	ENSP00000328215:G287S	ENSP00000328215:G287S	G	-	1	0	OR56A4	5980096	0.000000	0.05858	0.998000	0.56505	0.967000	0.64934	0.148000	0.16224	1.999000	0.58509	0.655000	0.94253	GGT		PASS	0.498	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		20	3	20	3	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048746	6048746	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:6048746G>T	ENST00000316650.5	-	1	225	c.189C>A	c.(187-189)caC>caA	p.H63Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H63Q(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)		ACAGGGGCTGGTGCAGAGAGG	0.607																																						uc010qzw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(187-189)CAC>CAA		olfactory receptor, family 56, subfamily A,							71.0	70.0	70.0					11																	6048746		2200	4276	6476	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048746G>T	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.189C>A	11.37:g.6048746G>T	ENSP00000321246:p.His63Gln						p.H63Q	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	189	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	63			Helical; Name=2; (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.189C>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057891	0.19987	.	.	ENSG00000180934	ENST00000316650	T	0.15952	2.38	4.27	-4.45	0.03546	GPCR, rhodopsin-like superfamily (1);	0.153914	0.29676	N	0.011500	T	0.18383	0.0441	M	0.79475	2.455	0.20926	N	0.999824	B	0.28378	0.209	B	0.27380	0.079	T	0.23013	-1.0200	10	0.72032	D	0.01	.	11.7281	0.51720	0.6313:0.0:0.3687:0.0	.	63	Q8NGH5	O56A1_HUMAN	Q	63	ENSP00000321246:H63Q	ENSP00000321246:H63Q	H	-	3	2	OR56A1	6005322	0.000000	0.05858	0.024000	0.17045	0.396000	0.30629	-2.391000	0.01057	-0.752000	0.04728	0.655000	0.94253	CAC		PASS	0.607	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		39	9	39	9	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6645060	6645060	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:6645060G>C	ENST00000299441.3	-	21	8258	c.7847C>G	c.(7846-7848)cCt>cGt	p.P2616R	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2616	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2616R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTCCAACAGGTGTGTCCTC	0.572																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(7846-7848)CCT>CGT		dachsous 1 precursor							191.0	170.0	178.0					11																	6645060		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645060G>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7847C>G	11.37:g.6645060G>C	ENSP00000299441:p.Pro2616Arg						p.P2616R	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8257	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2616			Cadherin 25.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7847C>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553945	0.65425	.	.	ENSG00000166341	ENST00000299441	T	0.52983	0.64	5.4	5.4	0.78164	Cadherin (3);Cadherin-like (1);	0.157342	0.30043	N	0.010546	T	0.58221	0.2107	M	0.87547	2.89	0.38937	D	0.958062	B	0.31274	0.317	B	0.38842	0.283	T	0.63233	-0.6683	10	0.48119	T	0.1	.	12.1226	0.53900	0.0813:0.0:0.9187:0.0	.	2616	Q96JQ0	PCD16_HUMAN	R	2616	ENSP00000299441:P2616R	ENSP00000299441:P2616R	P	-	2	0	DCHS1	6601636	0.999000	0.42202	0.715000	0.30552	0.977000	0.68977	3.066000	0.50002	2.822000	0.97130	0.650000	0.86243	CCT		PASS	0.572	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	124	5	124	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6651120	6651120	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:6651120C>A	ENST00000299441.3	-	11	5229	c.4818G>T	c.(4816-4818)ccG>ccT	p.P1606P	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1606	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1606P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCGGTCCAACGGCCGCACCA	0.662																																						uc001mem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(4816-4818)CCG>CCT		dachsous 1 precursor							42.0	42.0	42.0					11																	6651120		2200	4296	6496	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651120C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4818G>T	11.37:g.6651120C>A							p.P1606P	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5228	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1606			Cadherin 15.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.4818G>T	CCDS7771.1																																																																																				PASS	0.662	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		37	10	37	10	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6661977	6661977	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:6661977C>A	ENST00000299441.3	-	2	1279	c.868G>T	c.(868-870)Gtg>Ttg	p.V290L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	290	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V290L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGTAAGTCACAGCCCCATTG	0.597																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(868-870)GTG>TTG		dachsous 1 precursor							86.0	79.0	81.0					11																	6661977		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661977C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.868G>T	11.37:g.6661977C>A	ENSP00000299441:p.Val290Leu						p.V290L	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1278	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	290			Extracellular (Potential).|Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.868G>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821534	0.71028	.	.	ENSG00000166341	ENST00000299441	T	0.53206	0.63	5.01	4.09	0.47781	Cadherin (4);Cadherin-like (1);	0.169362	0.27807	N	0.017772	T	0.57666	0.2069	L	0.39326	1.205	0.52099	D	0.999944	D	0.53745	0.962	D	0.75484	0.986	T	0.54063	-0.8349	10	0.37606	T	0.19	.	12.3929	0.55368	0.0:0.9177:0.0:0.0823	.	290	Q96JQ0	PCD16_HUMAN	L	290	ENSP00000299441:V290L	ENSP00000299441:V290L	V	-	1	0	DCHS1	6618553	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.940000	0.63533	1.088000	0.41272	0.544000	0.68410	GTG		PASS	0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		10	36	10	36	---	---	---	---
OR5P3	120066	broad.mit.edu	37	11	7847153	7847153	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:7847153A>G	ENST00000328375.1	-	1	366	c.367T>C	c.(367-369)Tat>Cat	p.Y123H	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y123H(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGCCACATAGCGATCATAG	0.562																																						uc010rbg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(367-369)TAT>CAT		olfactory receptor, family 5, subfamily P,							136.0	129.0	131.0					11																	7847153		2186	4296	6482	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847153A>G	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.367T>C	11.37:g.7847153A>G	ENSP00000332068:p.Tyr123His						p.Y123H	NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	367	-			123			Cytoplasmic (Potential).		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.367T>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789371	0.49997	.	.	ENSG00000182334	ENST00000328375	T	0.02103	4.45	5.28	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000174	T	0.13756	0.0333	M	0.90145	3.09	0.27747	N	0.944274	D	0.89917	1.0	D	0.75484	0.986	T	0.04103	-1.0977	10	0.56958	D	0.05	-33.8087	9.5011	0.39017	0.9166:0.0:0.0833:0.0	.	123	Q8WZ94	OR5P3_HUMAN	H	123	ENSP00000332068:Y123H	ENSP00000332068:Y123H	Y	-	1	0	OR5P3	7803729	0.430000	0.25538	0.974000	0.42286	0.175000	0.22909	4.973000	0.63763	1.027000	0.39758	0.524000	0.50904	TAT		PASS	0.562	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		47	10	47	10	---	---	---	---
FAR1	84188	broad.mit.edu	37	11	13729621	13729621	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:13729621T>C	ENST00000354817.3	+	4	684	c.540T>C	c.(538-540)tcT>tcC	p.S180S		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	180					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.S180S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TGATTGATTCTTTAGAGTATG	0.428																																						uc001mld.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(538-540)TCT>TCC		fatty acyl CoA reductase 1							124.0	123.0	123.0					11																	13729621		2200	4294	6494	SO:0001819	synonymous_variant	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13729621T>C	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.540T>C	11.37:g.13729621T>C						FAR1_uc009ygp.2_Silent_p.S180S	p.S180S	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			4	695	+			180					D3DQW8|Q5CZA3	Silent	SNP	ENST00000354817.3	37	c.540T>C	CCDS7813.1																																																																																				PASS	0.428	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		34	17	34	17	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19970369	19970369	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:19970369C>T	ENST00000396087.3	+	11	2556	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	NAV2_ENST00000527559.2_Silent_p.D748D|NAV2_ENST00000396085.1_Silent_p.D796D|NAV2_ENST00000349880.4_Silent_p.D796D|NAV2_ENST00000540292.1_Silent_p.D750D|NAV2_ENST00000360655.4_Silent_p.D732D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	819					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.D819D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGCAGGAGACGCCCCCTCAA	0.617																																						uc010rdm.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(2455-2457)GAC>GAT		neuron navigator 2 isoform 2							64.0	56.0	59.0					11																	19970369		2199	4293	6492	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19970369C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2457C>T	11.37:g.19970369C>T						NAV2_uc001mpp.2_Silent_p.D732D|NAV2_uc001mpr.3_Silent_p.D796D	p.D819D	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			11	2818	+			819					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.2457C>T	CCDS58126.1																																																																																				PASS	0.617	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		5	39	5	39	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22391595	22391595	+	Missense_Mutation	SNP	C	C	A	rs142120566		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:22391595C>A	ENST00000263160.3	+	8	1339	c.902C>A	c.(901-903)aCt>aAt	p.T301N		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	301					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.T301N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAATTCAAGACTCCATGGAGG	0.338																																						uc001mqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(901-903)ACT>AAT		solute carrier family 17 (sodium-dependent							65.0	62.0	63.0					11																	22391595		2202	4298	6500	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22391595C>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.902C>A	11.37:g.22391595C>A	ENSP00000263160:p.Thr301Asn						p.T301N	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			8	1315	+			301			Cytoplasmic (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.902C>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915779	0.92178	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58652	0.32	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.205283	0.51477	D	0.000085	T	0.80819	0.4696	M	0.91920	3.255	0.80722	D	1	P	0.40909	0.732	P	0.57152	0.814	D	0.83512	0.0081	10	0.72032	D	0.01	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	301	Q9P2U8	VGLU2_HUMAN	N	301;189	ENSP00000263160:T301N	ENSP00000263160:T301N	T	+	2	0	SLC17A6	22348171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.702000	0.92279	0.591000	0.81541	ACT		PASS	0.338	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		23	11	23	11	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22399182	22399182	+	Nonsense_Mutation	SNP	C	C	T	rs527723180		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:22399182C>T	ENST00000263160.3	+	12	2082	c.1645C>T	c.(1645-1647)Cag>Tag	p.Q549*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	549					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.Q549*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCCACAACACAGGCCAATGG	0.393																																						uc001mqk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1645-1647)CAG>TAG		solute carrier family 17 (sodium-dependent							45.0	47.0	47.0					11																	22399182		2203	4300	6503	SO:0001587	stop_gained	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22399182C>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1645C>T	11.37:g.22399182C>T	ENSP00000263160:p.Gln549*						p.Q549*	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			12	2058	+			549			Cytoplasmic (Potential).		A6NKS2	Nonsense_Mutation	SNP	ENST00000263160.3	37	c.1645C>T	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	40	8.450023	0.98817	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.1588	0.98128	0.0:1.0:0.0:0.0	.	.	.	.	X	549;437	.	ENSP00000263160:Q549X	Q	+	1	0	SLC17A6	22355758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.770000	0.95276	0.563000	0.77884	CAG		PASS	0.393	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		26	5	26	5	---	---	---	---
FSHB	2488	broad.mit.edu	37	11	30253514	30253514	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:30253514A>T	ENST00000417547.1	+	2	104	c.65A>T	c.(64-66)gAg>gTg	p.E22V	FSHB_ENST00000254122.3_Missense_Mutation_p.E22V|FSHB_ENST00000533718.1_Missense_Mutation_p.E22V	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	22					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.E22V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						AATAGCTGTGAGCTGACCAAC	0.458																																						uc001msl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(64-66)GAG>GTG		follicle stimulating hormone, beta polypeptide	Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)						102.0	88.0	92.0					11																	30253514		2202	4299	6501	SO:0001583	missense	2488				cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	g.chr11:30253514A>T		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.65A>T	11.37:g.30253514A>T	ENSP00000416606:p.Glu22Val					FSHB_uc001msm.2_Missense_Mutation_p.E22V|FSHB_uc001msn.2_Missense_Mutation_p.E22V	p.E22V	NM_000510	NP_000501	P01225	FSHB_HUMAN			2	134	+			22					A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	c.65A>T	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	A	9.702	1.154642	0.21371	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.91124	-2.79;-2.79;-2.79	4.93	2.47	0.30058	Cystine knot (1);	0.257840	0.38111	N	0.001802	D	0.84556	0.5498	L	0.48877	1.53	0.44302	D	0.997175	B	0.02656	0.0	B	0.06405	0.002	T	0.78497	-0.2181	10	0.39692	T	0.17	-14.2664	7.1448	0.25577	0.7928:0.0:0.0759:0.1313	.	22	P01225	FSHB_HUMAN	V	22	ENSP00000254122:E22V;ENSP00000416606:E22V;ENSP00000433424:E22V	ENSP00000254122:E22V	E	+	2	0	FSHB	30210090	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.681000	0.46926	1.021000	0.39600	-0.250000	0.11733	GAG		PASS	0.458	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		47	12	47	12	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33620386	33620386	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:33620386G>T	ENST00000321505.4	+	12	4061	c.3881G>T	c.(3880-3882)gGc>gTc	p.G1294V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1300V|KIAA1549L_ENST00000265654.5_3'UTR			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1294						integral component of membrane (GO:0016021)		p.G1294V(1)									AGTGAGAATGGCTCTGTCATC	0.522																																						uc001mup.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3898-3900)GGC>GTC		hypothetical protein LOC25758							93.0	96.0	95.0					11																	33620386		2043	4189	6232	SO:0001583	missense	25758					integral to membrane		g.chr11:33620386G>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3881G>T	11.37:g.33620386G>T	ENSP00000315295:p.Gly1294Val					C11orf41_uc001mun.1_3'UTR	p.G1300V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			12	4023	+			1294					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3899G>T	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.680805|4.680805	0.88542|0.88542	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000536568	.|.	.|.	.|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.049476	.|0.85682	.|D	.|0.000000	T|T	0.78438|0.78438	0.4283|0.4283	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.75020	.|0.985	T|T	0.81611|0.81611	-0.0854|-0.0854	5|9	.|0.72032	.|D	.|0.01	-14.9366|-14.9366	17.7274|17.7274	0.88369|0.88369	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1300	.|E9PAT2	.|.	S|V	692|1294;1300;1133	.|.	.|ENSP00000315295:G1294V	A|G	+|+	1|2	0|0	C11orf41|C11orf41	33576962|33576962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.363000|9.363000	0.97131|0.97131	2.203000|2.203000	0.70933|0.70933	0.305000|0.305000	0.20034|0.20034	GCT|GGC		PASS	0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		18	10	18	10	---	---	---	---
LMO2	4005	broad.mit.edu	37	11	33886199	33886199	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:33886199C>A	ENST00000395833.3	-	2	635	c.206G>T	c.(205-207)cGg>cTg	p.R69L	LMO2_ENST00000257818.2_Missense_Mutation_p.R138L	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	69	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|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 RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)	p.R69L(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GTAGAGGCGCCGCCCCACCTC	0.647			T	TRD@	T-ALL																																	uc001mve.2				Dom	yes		11	11p13	4005	T	LIM domain only 2 (rhombotin-like 1) (RBTN2)			L	TRD@		T-ALL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(205-207)CGG>CTG		LIM domain only 2 isoform 2							33.0	33.0	33.0					11																	33886199		2202	4298	6500	SO:0001583	missense	4005				multicellular organismal development	nucleus	protein binding|zinc ion binding	g.chr11:33886199C>A	X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"""T-cell translocation gene 2"", ""rhombotin-like 1"""	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.206G>T	11.37:g.33886199C>A	ENSP00000379175:p.Arg69Leu					LMO2_uc001mvc.2_Missense_Mutation_p.R62L|LMO2_uc001mvd.2_Missense_Mutation_p.R62L|LMO2_uc010rel.1_Missense_Mutation_p.R69L|LMO2_uc010rem.1_Missense_Mutation_p.R138L	p.R69L	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN			2	645	-			69			LIM zinc-binding 1.		Q9HD58	Missense_Mutation	SNP	ENST00000395833.3	37	c.206G>T	CCDS44567.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547530	0.65311	.	.	ENSG00000135363	ENST00000395833;ENST00000257818	T;T	0.60171	0.21;0.61	5.38	5.38	0.77491	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	N	0.17312	0.475	0.80722	D	1	P;D	0.58620	0.859;0.983	B;D	0.65140	0.325;0.932	T	0.59606	-0.7423	10	0.29301	T	0.29	.	19.4991	0.95086	0.0:1.0:0.0:0.0	.	138;69	P25791-3;P25791	.;RBTN2_HUMAN	L	69;138	ENSP00000379175:R69L;ENSP00000257818:R138L	ENSP00000257818:R138L	R	-	2	0	LMO2	33842775	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.963000	0.70372	2.695000	0.91970	0.650000	0.86243	CGG		PASS	0.647	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1	NM_005574		17	3	17	3	---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45274009	45274009	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:45274009C>T	ENST00000020926.3	-	4	920	c.809G>A	c.(808-810)gGg>gAg	p.G270E	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	270					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.G270E(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGGGCAGCCCCTAGAGGCAC	0.642											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001myq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(808-810)GGG>GAG		synaptotagmin XIII							58.0	61.0	60.0					11																	45274009		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45274009C>T	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.809G>A	11.37:g.45274009C>T	ENSP00000020926:p.Gly270Glu		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Missense_Mutation_p.G126E	p.G270E	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			4	935	-			270			Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.809G>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	7.733	0.699668	0.15106	.	.	ENSG00000019505	ENST00000020926	T	0.08282	3.11	5.59	5.59	0.84812	C2 calcium/lipid-binding domain, CaLB (1);	0.060788	0.64402	D	0.000003	T	0.08088	0.0202	L	0.27053	0.805	0.53005	D	0.999961	P	0.42518	0.782	B	0.42361	0.385	T	0.07673	-1.0760	10	0.02654	T	1	.	19.5966	0.95541	0.0:1.0:0.0:0.0	.	270	Q7L8C5	SYT13_HUMAN	E	270	ENSP00000020926:G270E	ENSP00000020926:G270E	G	-	2	0	SYT13	45230585	1.000000	0.71417	0.996000	0.52242	0.609000	0.37215	5.886000	0.69743	2.622000	0.88805	0.561000	0.74099	GGG		PASS	0.642	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		48	15	48	15	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55594910	55594910	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:55594910C>A	ENST00000378397.1	+	1	216	c.216C>A	c.(214-216)tgC>tgA	p.C72*		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C72*(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TAGATTTCTGCTACTCCTCAA	0.458										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(214-216)TGC>TGA		olfactory receptor, family 5, subfamily L,							222.0	205.0	211.0					11																	55594910		2200	4296	6496	SO:0001587	stop_gained	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594910C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.216C>A	11.37:g.55594910C>A	ENSP00000367650:p.Cys72*	HNSCC(27;0.073)					p.C72*	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	216	+		all_epithelial(135;0.208)	72			Helical; Name=2; (Potential).		Q6IF66|Q96RB2	Nonsense_Mutation	SNP	ENST00000378397.1	37	c.216C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	16.34	3.095327	0.56075	.	.	ENSG00000205030	ENST00000378397	.	.	.	5.21	-1.67	0.08238	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7607	6.4644	0.21973	0.0:0.4196:0.1201:0.4603	.	.	.	.	X	72	.	ENSP00000367650:C72X	C	+	3	2	OR5L2	55351486	0.000000	0.05858	0.916000	0.36221	0.977000	0.68977	-2.711000	0.00817	-0.502000	0.06596	0.626000	0.83405	TGC		PASS	0.458	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		118	30	118	30	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890494	55890494	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:55890494G>T	ENST00000313472.3	+	1	646	c.646G>T	c.(646-648)Gca>Tca	p.A216S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A216S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CACAATATCTGCATCCTATGT	0.438																																						uc001nii.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(646-648)GCA>TCA		olfactory receptor, family 8, subfamily H,							180.0	164.0	169.0					11																	55890494		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890494G>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.646G>T	11.37:g.55890494G>T	ENSP00000323928:p.Ala216Ser						p.A216S	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	646	+	Esophageal squamous(21;0.00693)		216			Helical; Name=5; (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.646G>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	2.956	-0.215723	0.06101	.	.	ENSG00000181761	ENST00000313472	T	0.37235	1.21	3.62	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	1.376510	0.04738	N	0.422404	T	0.28433	0.0703	L	0.41492	1.28	0.09310	N	1	B	0.19583	0.037	B	0.21360	0.034	T	0.36986	-0.9725	10	0.54805	T	0.06	.	2.1219	0.03728	0.174:0.1653:0.4918:0.169	.	216	Q8N146	OR8H3_HUMAN	S	216	ENSP00000323928:A216S	ENSP00000323928:A216S	A	+	1	0	OR8H3	55647070	0.000000	0.05858	0.019000	0.16419	0.099000	0.18886	-1.721000	0.01870	1.734000	0.51633	0.173000	0.16961	GCA		PASS	0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		87	27	87	27	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043882	56043882	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:56043882C>T	ENST00000313033.2	+	1	854	c.768C>T	c.(766-768)caC>caT	p.H256H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H256H(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GTGGAGCTCACCTAACTGGAG	0.423																																						uc001nio.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(766-768)CAC>CAT		olfactory receptor, family 5, subfamily T,							242.0	210.0	221.0					11																	56043882		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043882C>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.768C>T	11.37:g.56043882C>T							p.H256H	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	768	+	Esophageal squamous(21;0.00448)		256			Helical; Name=6; (Potential).		B2RNM9	Silent	SNP	ENST00000313033.2	37	c.768C>T	CCDS31525.1																																																																																				PASS	0.423	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		111	33	111	33	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56086400	56086400	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:56086400T>A	ENST00000312711.1	+	1	618	c.618T>A	c.(616-618)gaT>gaA	p.D206E		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D206E(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CAGCTATTGATTTGATTTCAT	0.358																																						uc010rjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(616-618)GAT>GAA		olfactory receptor, family 8, subfamily K,							101.0	98.0	99.0					11																	56086400		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086400T>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.618T>A	11.37:g.56086400T>A	ENSP00000323555:p.Asp206Glu						p.D206E	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	618	+	Esophageal squamous(21;0.00448)		206			Helical; Name=5; (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.618T>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	T	8.302	0.820242	0.16678	.	.	ENSG00000181689	ENST00000312711	T	0.00076	8.76	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.629210	0.15463	N	0.261013	T	0.00109	0.0003	N	0.16602	0.42	0.09310	N	1	B	0.21225	0.053	B	0.27262	0.078	T	0.39921	-0.9590	10	0.87932	D	0	.	10.7435	0.46166	0.0:0.0:0.1588:0.8412	.	206	Q8NH51	OR8K3_HUMAN	E	206	ENSP00000323555:D206E	ENSP00000323555:D206E	D	+	3	2	OR8K3	55842976	0.000000	0.05858	0.909000	0.35828	0.008000	0.06430	-0.614000	0.05604	1.981000	0.57761	0.386000	0.25728	GAT		PASS	0.358	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		6	67	6	67	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58980283	58980283	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:58980283G>C	ENST00000361050.3	-	1	141	c.56C>G	c.(55-57)tCa>tGa	p.S19*	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	19						integral component of membrane (GO:0016021)		p.S19*(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)				AGGCTTGCCTGATTTAGCCCA	0.572																																						uc001nnu.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(55-57)TCA>TGA		macrophage expressed gene 1 precursor							83.0	85.0	85.0					11																	58980283		1998	4175	6173	SO:0001587	stop_gained	219972					integral to membrane		g.chr11:58980283G>C	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.56C>G	11.37:g.58980283G>C	ENSP00000354335:p.Ser19*						p.S19*	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	212	-		all_epithelial(135;0.125)	19					Q2M1T6|Q8TEF8	Nonsense_Mutation	SNP	ENST00000361050.3	37	c.56C>G	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790868	0.50102	.	.	ENSG00000197629	ENST00000361050;ENST00000545098	.	.	.	5.52	-6.89	0.01660	.	1.634300	0.03132	N	0.165355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	3.7686	3.6183	0.08086	0.1597:0.221:0.4516:0.1677	.	.	.	.	X	19	.	ENSP00000354335:S19X	S	-	2	0	MPEG1	58736859	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.657000	0.05335	-0.726000	0.04895	0.644000	0.83932	TCA		PASS	0.572	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		88	24	88	24	---	---	---	---
GIF	2694	broad.mit.edu	37	11	59611377	59611377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:59611377G>T	ENST00000257248.2	-	2	278	c.231C>A	c.(229-231)taC>taA	p.Y77*	GIF_ENST00000541311.1_Nonsense_Mutation_p.Y52*	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	77					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.Y77*(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	ACATGAGCTGGTAAGTCAGGA	0.537																																					NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|liver(1)	2						c.(229-231)TAC>TAA		gastric intrinsic factor (vitamin B synthesis)							106.0	92.0	96.0					11																	59611377		2201	4295	6496	SO:0001587	stop_gained	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59611377G>T	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.231C>A	11.37:g.59611377G>T	ENSP00000257248:p.Tyr77*					GIF_uc010rkz.1_Nonsense_Mutation_p.Y77*	p.Y77*	NM_005142	NP_005133	P27352	IF_HUMAN			2	279	-			77					B2RAN8|B4DVZ1	Nonsense_Mutation	SNP	ENST00000257248.2	37	c.231C>A	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316347	0.23908	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	.	.	.	5.5	-5.15	0.02866	.	1.199700	0.05925	N	0.634138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0431	5.0387	0.14447	0.5393:0.0:0.2029:0.2578	.	.	.	.	X	77;52	.	ENSP00000257248:Y77X	Y	-	3	2	GIF	59367953	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.220000	0.09215	-0.531000	0.06340	-0.345000	0.07892	TAC		PASS	0.537	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		15	7	15	7	---	---	---	---
SLC22A10	387775	broad.mit.edu	37	11	63059062	63059062	+	Silent	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:63059062A>T	ENST00000332793.6	+	2	455	c.453A>T	c.(451-453)ctA>ctT	p.L151L	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Silent_p.L99L|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	151						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L151L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TTCAATTCCTACTTCTGACTG	0.458																																						uc009yor.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(451-453)CTA>CTT		solute carrier family 22, member 10							162.0	159.0	160.0					11																	63059062		2092	4251	6343	SO:0001819	synonymous_variant	387775					integral to membrane	transmembrane transporter activity	g.chr11:63059062A>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.453A>T	11.37:g.63059062A>T						SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Silent_p.L99L	p.L151L	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			2	661	+			151			Helical; (Potential).		Q68CJ0	Silent	SNP	ENST00000332793.6	37	c.453A>T	CCDS41661.1																																																																																				PASS	0.458	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		10	88	10	88	---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63449137	63449137	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:63449137C>T	ENST00000377819.5	+	1	183	c.29C>T	c.(28-30)tCc>tTc	p.S10F	RTN3_ENST00000356000.3_Missense_Mutation_p.S10F|RTN3_ENST00000540798.1_Missense_Mutation_p.S10F|RTN3_ENST00000339997.4_Missense_Mutation_p.S10F|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000354497.4_Missense_Mutation_p.S10F|RTN3_ENST00000537981.1_Missense_Mutation_p.S10F|RTN3_ENST00000341307.2_Missense_Mutation_p.S10F	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	10					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S10F(3)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GCCACTCAGTCCCATTCCATC	0.687																																						uc001nxq.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(28-30)TCC>TTC		reticulon 3 isoform b							26.0	31.0	29.0					11																	63449137		2193	4288	6481	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63449137C>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.29C>T	11.37:g.63449137C>T	ENSP00000367050:p.Ser10Phe					RTN3_uc001nxo.2_Missense_Mutation_p.S10F|RTN3_uc001nxm.2_Missense_Mutation_p.S10F|RTN3_uc001nxn.2_Missense_Mutation_p.S10F|RTN3_uc001nxp.2_Missense_Mutation_p.S10F|RTN3_uc009yov.2_Missense_Mutation_p.S10F|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Missense_Mutation_p.S10F	p.S10F	NM_201428	NP_958831	O95197	RTN3_HUMAN			1	216	+			10					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.29C>T	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333186	0.60853	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000542238;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000545432;ENST00000543552;ENST00000537981;ENST00000354497	T;T;T;T;T;T;T;T;T;T	0.59906	0.47;0.65;0.71;1.16;1.08;1.04;0.26;0.31;0.68;0.23	4.33	3.42	0.39159	.	0.636686	0.13029	N	0.419446	T	0.42359	0.1199	L	0.27053	0.805	0.31904	N	0.615626	B;B;B;B;B;B;B	0.27498	0.001;0.18;0.113;0.0;0.0;0.18;0.0	B;B;B;B;B;B;B	0.23018	0.003;0.043;0.019;0.002;0.0;0.043;0.0	T	0.50329	-0.8841	10	0.87932	D	0	-0.7778	8.0194	0.30400	0.0:0.8848:0.0:0.1152	.	10;10;10;10;10;10;10	B7Z4M0;F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;.;RTN3_HUMAN;.;.;.;.	F	10	ENSP00000340903:S10F;ENSP00000348279:S10F;ENSP00000437971:S10F;ENSP00000367050:S10F;ENSP00000344106:S10F;ENSP00000442733:S10F;ENSP00000441614:S10F;ENSP00000442080:S10F;ENSP00000440874:S10F;ENSP00000346492:S10F	ENSP00000344106:S10F	S	+	2	0	RTN3	63205713	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.010000	0.40913	0.818000	0.34468	0.462000	0.41574	TCC		PASS	0.687	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		36	9	36	9	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64681895	64681895	+	Silent	SNP	G	G	A	rs374688586		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:64681895G>A	ENST00000377264.3	-	2	361	c.249C>T	c.(247-249)gcC>gcT	p.A83A	ATG2A_ENST00000421419.2_Silent_p.A83A	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	83					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.A83A(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCCAGGGCACGGCCACCTCGA	0.652																																						uc001obx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(247-249)GCC>GCT		autophagy related 2A		G		1,4401	2.1+/-5.4	0,1,2200	49.0	49.0	49.0		249	3.0	1.0	11		49	0,8594		0,0,4297	no	coding-synonymous	ATG2A	NM_015104.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		83/1939	64681895	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64681895G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.249C>T	11.37:g.64681895G>A						ATG2A_uc010rnt.1_Silent_p.A83A	p.A83A	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			2	364	-			83					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.249C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	g	10.68	1.419657	0.25552	2.27E-4	0.0	ENSG00000110046	ENST00000377262	.	.	.	4.02	3.02	0.34903	.	.	.	.	.	T	0.59945	0.2231	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58702	-0.7590	5	0.52906	T	0.07	.	6.7669	0.23573	0.1772:0.0:0.8228:0.0	.	.	.	.	C	81	.	ENSP00000366473:R81C	R	-	1	0	ATG2A	64438471	0.953000	0.32496	1.000000	0.80357	0.994000	0.84299	-0.015000	0.12634	0.896000	0.36366	0.457000	0.33378	CGT		PASS	0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		5	5	5	5	---	---	---	---
ACY3	91703	broad.mit.edu	37	11	67410278	67410278	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:67410278C>T	ENST00000255082.3	-	8	1047	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ACY3_ENST00000529256.1_Missense_Mutation_p.V172I	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	293	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.V293I(1)		endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	ACAAAGGCAACGCCCTTCTCA	0.582																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(877-879)GTT>ATT		aspartoacylase 3	L-Aspartic Acid(DB00128)						131.0	108.0	116.0					11																	67410278		2200	4294	6494	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67410278C>T	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.877G>A	11.37:g.67410278C>T	ENSP00000255082:p.Val293Ile						p.V293I	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			8	1048	-			293						Missense_Mutation	SNP	ENST00000255082.3	37	c.877G>A	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	C	0.076	-1.192813	0.01607	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97553	-4.43;-4.43	4.57	-0.622	0.11560	.	0.613056	0.15612	N	0.253336	D	0.85864	0.5796	N	0.01424	-0.875	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.76460	-0.2951	10	0.02654	T	1	-23.1006	10.4429	0.44477	0.0:0.5439:0.0:0.4561	.	293	Q96HD9	ACY3_HUMAN	I	293;172	ENSP00000255082:V293I;ENSP00000434270:V172I	ENSP00000255082:V293I	V	-	1	0	ACY3	67166854	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	0.335000	0.19806	-0.295000	0.08960	-1.267000	0.01435	GTT		PASS	0.582	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		83	14	83	14	---	---	---	---
FOLR3	2352	broad.mit.edu	37	11	71850028	71850028	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:71850028G>A	ENST00000445078.2	+	3	383	c.312G>A	c.(310-312)atG>atA	p.M104I	FOLR3_ENST00000456237.1_Missense_Mutation_p.M106I|FOLR3_ENST00000442948.2_Missense_Mutation_p.A64T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	84					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)	p.M106I(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GAAGAAGAATGCCTGCTGCAC	0.572																																						uc001ory.1																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)ATG>ATA		SubName: Full=FOLR3 protein; Flags: Fragment;	Folic Acid(DB00158)						39.0	42.0	41.0					11																	71850028		2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850028G>A	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.312G>A	11.37:g.71850028G>A	ENSP00000390338:p.Met104Ile					FOLR3_uc001orx.1_Missense_Mutation_p.A64T	p.M106I			P41439	FOLR3_HUMAN			3	368	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.318G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	4.361|4.361	0.066509|0.066509	0.08388|0.08388	.|.	.|.	ENSG00000110203|ENSG00000110203	ENST00000442948;ENST00000546166|ENST00000445078;ENST00000456237	T;T|T;T	0.77489|0.70631	-1.1;-1.1|-0.5;-0.5	3.21|3.21	1.14|1.14	0.20703|0.20703	Folate receptor-like (1);|.	0.087753|.	0.45361|.	U|.	0.000379|.	T|T	0.57814|0.57814	0.2079|0.2079	.|.	.|.	.|.	0.37385|0.37385	D|D	0.912221|0.912221	D|B	0.56746|0.16802	0.977|0.019	P|B	0.62560|0.19391	0.904|0.025	T|T	0.52056|0.52056	-0.8626|-0.8626	9|8	0.87932|0.36615	D|T	0|0.2	.|.	9.6885|9.6885	0.40114|0.40114	0.0:0.0:0.4588:0.5412|0.0:0.0:0.4588:0.5412	.|.	62|106	P41439|E9PGT2	FOLR3_HUMAN|.	T|I	64;62|104;106	ENSP00000411161:A64T;ENSP00000446279:A62T|ENSP00000390338:M104I;ENSP00000399235:M106I	ENSP00000325032:A62T|ENSP00000390338:M104I	A|M	+|+	1|3	0|0	FOLR3|FOLR3	71527676|71527676	0.997000|0.997000	0.39634|0.39634	0.813000|0.813000	0.32504|0.32504	0.806000|0.806000	0.45545|0.45545	2.430000|2.430000	0.44766|0.44766	0.148000|0.148000	0.19059|0.19059	0.591000|0.591000	0.81541|0.81541	GCC|ATG		PASS	0.572	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		20	4	20	4	---	---	---	---
SERPINH1	871	broad.mit.edu	37	11	75282989	75282989	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:75282989G>C	ENST00000524558.1	+	5	2553	c.1118G>C	c.(1117-1119)cGc>cCc	p.R373P	SERPINH1_ENST00000525876.1_Missense_Mutation_p.R156P|SERPINH1_ENST00000358171.3_Missense_Mutation_p.R373P|SERPINH1_ENST00000533603.1_Missense_Mutation_p.R373P			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	373					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R373P(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					ATCTACGGGCGCGAGGAGCTG	0.607																																						uc001owr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1117-1119)CGC>CCC		serine (or cysteine) proteinase inhibitor, clade							49.0	41.0	44.0					11																	75282989		2200	4293	6493	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75282989G>C	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.1118G>C	11.37:g.75282989G>C	ENSP00000434412:p.Arg373Pro					SERPINH1_uc009yug.2_Missense_Mutation_p.R373P|SERPINH1_uc001ows.2_Missense_Mutation_p.R373P|SERPINH1_uc001owt.2_Missense_Mutation_p.R156P	p.R373P	NM_001235	NP_001226	P50454	SERPH_HUMAN			5	1347	+	Ovarian(111;0.11)		373					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.1118G>C	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179670	0.57800	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000421448;ENST00000524558;ENST00000525876	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.13	5.13	0.70059	Serpin domain (3);	0.225158	0.44902	D	0.000411	T	0.77498	0.4139	L	0.41824	1.3	0.43230	D	0.995121	P	0.44816	0.844	B	0.40329	0.326	T	0.76626	-0.2890	10	0.29301	T	0.29	.	16.4265	0.83816	0.0:0.0:1.0:0.0	.	373	P50454	SERPH_HUMAN	P	373;373;352;373;156	ENSP00000434657:R373P;ENSP00000350894:R373P;ENSP00000434412:R373P;ENSP00000433532:R156P	ENSP00000350894:R373P	R	+	2	0	SERPINH1	74960637	1.000000	0.71417	0.978000	0.43139	0.966000	0.64601	4.364000	0.59479	2.532000	0.85374	0.561000	0.74099	CGC		PASS	0.607	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		20	2	20	2	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83962335	83962335	+	Splice_Site	SNP	C	C	A	rs147726548		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:83962335C>A	ENST00000532653.1	-	3	507		c.e3-1		DLG2_ENST00000524982.1_Splice_Site|DLG2_ENST00000280241.8_Splice_Site|DLG2_ENST00000543673.1_Splice_Site|DLG2_ENST00000376106.3_Splice_Site|DLG2_ENST00000537455.1_Splice_Site|DLG2_ENST00000330014.6_Splice_Site|DLG2_ENST00000398309.2_Splice_Site|DLG2_ENST00000531015.1_Splice_Site|DLG2_ENST00000398301.2_Splice_Site|DLG2_ENST00000376104.2_Splice_Site|DLG2_ENST00000418306.2_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.?(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAGGACTGGCCTGAAAAAAGA	0.299																																						uc001paj.2																			3	Unknown(3)		lung(3)	ovary(3)|pancreas(2)|skin(1)	6						c.e3-1		chapsyn-110 isoform 2							40.0	36.0	37.0					11																	83962335		1795	4065	5860	SO:0001630	splice_region_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83962335C>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.205-1G>T	11.37:g.83962335C>A						DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Splice_Site_p.A36_splice|DLG2_uc010rsz.1_Splice_Site_p.A69_splice|DLG2_uc010rta.1_Splice_Site_p.A69_splice|DLG2_uc001pak.2_Splice_Site_p.A174_splice|DLG2_uc010rtb.1_Splice_Site_p.A36_splice|DLG2_uc001pal.1_Splice_Site_p.A69_splice|DLG2_uc001pam.1_Splice_Site_p.A108_splice	p.A69_splice	NM_001364	NP_001355	Q15700	DLG2_HUMAN			3	508	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)						B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Splice_Site	SNP	ENST00000532653.1	37	c.205_splice		.	.	.	.	.	.	.	.	.	.	C	18.38	3.612244	0.66672	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1655	0.81750	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG2	83639983	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.775000	0.62346	2.545000	0.85829	0.655000	0.94253	.		PASS	0.299	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	Intron	13	3	13	3	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89073306	89073306	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:89073306T>C	ENST00000263317.4	-	15	1609	c.1371A>G	c.(1369-1371)ctA>ctG	p.L457L	NOX4_ENST00000525196.1_Silent_p.L221L|NOX4_ENST00000424319.1_Silent_p.L433L|NOX4_ENST00000528341.1_Silent_p.L432L|NOX4_ENST00000535633.1_Silent_p.L433L|NOX4_ENST00000534731.1_Silent_p.L417L|NOX4_ENST00000531342.1_Silent_p.L110L|NOX4_ENST00000542487.1_Silent_p.L433L|NOX4_ENST00000375979.3_Silent_p.L150L|NOX4_ENST00000343727.5_Silent_p.L433L|NOX4_ENST00000527626.1_Silent_p.L291L|NOX4_ENST00000527956.1_Silent_p.L433L|NOX4_ENST00000413594.2_Silent_p.L478L|NOX4_ENST00000532825.1_Silent_p.L393L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	457	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|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 protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.L457L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAATAAAGTATAGTCTTCTAA	0.338																																						uc001pct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1369-1371)CTA>CTG		NADPH oxidase 4 isoform a							122.0	121.0	121.0					11																	89073306		2201	4298	6499	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89073306T>C	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1371A>G	11.37:g.89073306T>C						NOX4_uc009yvr.2_Silent_p.L432L|NOX4_uc001pcu.2_Silent_p.L383L|NOX4_uc001pcw.2_Silent_p.L150L|NOX4_uc001pcx.2_Silent_p.L110L|NOX4_uc001pcv.2_Silent_p.L417L|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Silent_p.L291L|NOX4_uc009yvp.2_Silent_p.L221L|NOX4_uc010rtv.1_Silent_p.L393L|NOX4_uc009yvq.2_Silent_p.L433L	p.L457L	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			15	1610	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	457			Cytoplasmic (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.1371A>G	CCDS8285.1																																																																																				PASS	0.338	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		91	18	91	18	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93837756	93837756	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:93837756G>A	ENST00000315765.9	+	16	2753	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	915	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.K919K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGAATGAAAAGGGAAGAAGAA	0.348																																						uc001pep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2743-2745)AAG>AAA		hephaestin-like 1 precursor							126.0	124.0	125.0					11																	93837756		1856	4093	5949	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93837756G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2745G>A	11.37:g.93837756G>A						uc001pen.1_Intron	p.K915K	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			16	2902	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	915			Extracellular (Potential).|Plastocyanin-like 6.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2745G>A	CCDS44710.1																																																																																				PASS	0.348	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		35	14	35	14	---	---	---	---
SESN3	143686	broad.mit.edu	37	11	94924617	94924617	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:94924617C>A	ENST00000536441.1	-	3	629	c.293G>T	c.(292-294)cGc>cTc	p.R98L	RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000537480.1_5'Flank|SESN3_ENST00000416495.2_Missense_Mutation_p.R98L|SESN3_ENST00000278499.2_Missense_Mutation_p.R20L|SESN3_ENST00000393234.1_Missense_Mutation_p.R98L|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	98					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.R98L(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACCATCCATGCGCAACATGTA	0.443																																						uc001pfk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)CGC>CTC		sestrin 3							202.0	176.0	185.0					11																	94924617		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94924617C>A	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.293G>T	11.37:g.94924617C>A	ENSP00000441927:p.Arg98Leu					SESN3_uc010rug.1_Missense_Mutation_p.R20L|SESN3_uc001pfl.2_Missense_Mutation_p.R98L	p.R98L	NM_144665	NP_653266	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	3	515	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	98					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.293G>T	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519246	0.85495	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.62266	1.93	0.80722	D	1	D;D;D	0.65815	0.96;0.995;0.984	P;P;P	0.62382	0.765;0.901;0.828	T	0.33497	-0.9866	10	0.52906	T	0.07	-2.0503	20.0953	0.97838	0.0:1.0:0.0:0.0	.	20;98;98	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	L	98;20;98;98	ENSP00000441927:R98L;ENSP00000278499:R20L;ENSP00000376926:R98L;ENSP00000407008:R98L	ENSP00000278499:R20L	R	-	2	0	SESN3	94564265	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.534000	0.53568	2.767000	0.95098	0.655000	0.94253	CGC		PASS	0.443	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		26	104	26	104	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99944961	99944961	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:99944961C>T	ENST00000524871.1	+	13	1805	c.1515C>T	c.(1513-1515)ccC>ccT	p.P505P	CNTN5_ENST00000528682.1_Silent_p.P505P|CNTN5_ENST00000527185.1_Silent_p.P505P|CNTN5_ENST00000418526.2_Silent_p.P431P|CNTN5_ENST00000279463.3_Silent_p.P505P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	505	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.P505P(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTGCAAACCCCAAGGCTCTC	0.358																																						uc001pga.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1513-1515)CCC>CCT		contactin 5 isoform long							63.0	63.0	63.0					11																	99944961		1840	4084	5924	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99944961C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1515C>T	11.37:g.99944961C>T						CNTN5_uc009ywv.1_Silent_p.P505P|CNTN5_uc001pfz.2_Silent_p.P505P|CNTN5_uc001pgb.2_Silent_p.P431P	p.P505P	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	13	1854	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	505			Ig-like C2-type 5.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.1515C>T	CCDS53696.1																																																																																				PASS	0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		13	3	13	3	---	---	---	---
ELMOD1	55531	broad.mit.edu	37	11	107501187	107501187	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:107501187G>T	ENST00000265840.7	+	3	327	c.62G>T	c.(61-63)tGg>tTg	p.W21L	ELMOD1_ENST00000531234.1_Missense_Mutation_p.W15L|ELMOD1_ENST00000443271.2_Missense_Mutation_p.W21L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	21					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)	p.W21L(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AAATTTCTGTGGCGCTGCCTG	0.403																																						uc010rvs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)TGG>TTG		ELMO/CED-12 domain containing 1 isoform 1							63.0	57.0	59.0					11																	107501187		1856	4093	5949	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107501187G>T	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.62G>T	11.37:g.107501187G>T	ENSP00000265840:p.Trp21Leu					ELMOD1_uc001pjm.2_Missense_Mutation_p.W21L|ELMOD1_uc010rvt.1_Missense_Mutation_p.W15L	p.W21L	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	3	466	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	21					B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.62G>T	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387802	0.42308	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	U	0.000001	T	0.69895	0.3162	L	0.54323	1.7	0.80722	D	1	D;P	0.55605	0.972;0.917	P;P	0.52267	0.694;0.693	T	0.70923	-0.4740	9	0.51188	T	0.08	.	19.3358	0.94319	0.0:0.0:1.0:0.0	.	21;21	Q8N336;G5E9S5	ELMD1_HUMAN;.	L	15;21;21	.	ENSP00000265840:W21L	W	+	2	0	ELMOD1	107006397	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.240000	0.95396	2.578000	0.87016	0.655000	0.94253	TGG		PASS	0.403	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		9	3	9	3	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119025544	119025544	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:119025544C>A	ENST00000449422.2	+	6	793	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	ABCG4_ENST00000307417.3_Missense_Mutation_p.S202Y|ABCG4_ENST00000531739.1_Missense_Mutation_p.S202Y	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	202	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S202Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCTGCTCTCTGGCGGGCAG	0.622																																						uc001pvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(604-606)TCT>TAT		ATP-binding cassette, subfamily G, member 4							117.0	109.0	112.0					11																	119025544		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119025544C>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.605C>A	11.37:g.119025544C>A	ENSP00000406874:p.Ser202Tyr					ABCG4_uc009zar.2_Missense_Mutation_p.S202Y	p.S202Y	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	941	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	202			Cytoplasmic (Potential).|ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.605C>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336599	0.81801	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.74106	-0.81;-0.81;-0.81	5.11	4.13	0.48395	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.167823	0.56097	D	0.000040	D	0.92586	0.7645	H	0.99900	4.915	0.58432	D	0.999998	D	0.89917	1.0	D	0.72982	0.979	D	0.95447	0.8531	10	0.87932	D	0	-26.1318	14.3175	0.66463	0.1491:0.8509:0.0:0.0	.	202	Q9H172	ABCG4_HUMAN	Y	202	ENSP00000304111:S202Y;ENSP00000406874:S202Y;ENSP00000434318:S202Y	ENSP00000304111:S202Y	S	+	2	0	ABCG4	118530754	1.000000	0.71417	0.962000	0.40283	0.870000	0.49936	5.989000	0.70587	2.386000	0.81285	0.491000	0.48974	TCT		PASS	0.622	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		64	13	64	13	---	---	---	---
PDZD3	79849	broad.mit.edu	37	11	119059486	119059486	+	Silent	SNP	C	C	A	rs368404870		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:119059486C>A	ENST00000531114.1	+	7	1944	c.1395C>A	c.(1393-1395)tcC>tcA	p.S465S	PDZD3_ENST00000355547.5_Silent_p.S399S|PDZD3_ENST00000322712.4_Silent_p.S385S|PDZD3_ENST00000525131.1_Silent_p.S386S|PDZD3_ENST00000392817.2_Silent_p.S465S			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	465					cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.S385S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CTCTTGGCTCCCGACAGTGCT	0.617																																						uc001pwb.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1393-1395)TCC>TCA		RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;							109.0	103.0	105.0					11																	119059486		2200	4295	6495	SO:0001819	synonymous_variant	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119059486C>A	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1395C>A	11.37:g.119059486C>A						PDZD3_uc001pvy.2_Silent_p.S385S|PDZD3_uc001pvz.2_Silent_p.S399S|PDZD3_uc010rzd.1_Silent_p.S386S|PDZD3_uc001pwa.2_Silent_p.S95S	p.S465S			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	7	1919	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	465					Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Silent	SNP	ENST00000531114.1	37	c.1395C>A																																																																																					PASS	0.617	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		72	13	72	13	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124744123	124744123	+	Missense_Mutation	SNP	C	C	A	rs367653125	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:124744123C>A	ENST00000397801.1	+	12	2134	c.1942C>A	c.(1942-1944)Cgt>Agt	p.R648S	ROBO3_ENST00000538940.1_Missense_Mutation_p.R626S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	648	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.R648S(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGAGCCTGTCCGTACACAGGG	0.557																																						uc001qbc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1942-1944)CGT>AGT		roundabout, axon guidance receptor, homolog 3							39.0	42.0	41.0					11																	124744123		2053	4187	6240	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124744123C>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1942C>A	11.37:g.124744123C>A	ENSP00000380903:p.Arg648Ser					ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank	p.R648S	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	12	2134	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	648			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.1942C>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812758	0.50527	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	D;D	0.82433	-1.61;-1.61	5.14	5.14	0.70334	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.589540	0.13441	N	0.387666	T	0.80959	0.4724	L	0.36672	1.1	0.80722	D	1	B	0.23735	0.09	B	0.33620	0.167	T	0.74737	-0.3564	10	0.39692	T	0.17	.	17.5414	0.87849	0.0:1.0:0.0:0.0	.	648	Q96MS0	ROBO3_HUMAN	S	648;626	ENSP00000380903:R648S;ENSP00000441797:R626S	ENSP00000380903:R648S	R	+	1	0	ROBO3	124249333	0.999000	0.42202	0.997000	0.53966	0.910000	0.53928	4.790000	0.62453	2.673000	0.90976	0.655000	0.94253	CGT		PASS	0.557	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		40	7	40	7	---	---	---	---
GLB1L2	89944	broad.mit.edu	37	11	134237152	134237152	+	Splice_Site	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:134237152G>C	ENST00000535456.2	+	9	994	c.806G>C	c.(805-807)gGg>gCg	p.G269A	GLB1L2_ENST00000389881.3_Splice_Site_p.G269A|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Splice_Site_p.G269A	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	269					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.G269A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGTGTCCAGGGGACTCAGCCC	0.547																																						uc001qhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(805-807)GGG>GCG		galactosidase, beta 1-like 2 precursor							132.0	117.0	122.0					11																	134237152		2201	4297	6498	SO:0001630	splice_region_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134237152G>C		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.805-1G>C	11.37:g.134237152G>C						GLB1L2_uc009zdg.1_RNA	p.G269A	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	9	994	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	269					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.806G>C	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	G	4.271	0.049369	0.08243	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.97994	-4.65;-4.65;-4.65	5.51	3.36	0.38483	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.453885	0.23746	N	0.044973	D	0.94345	0.8182	L	0.37800	1.135	0.09310	N	0.999999	B	0.29341	0.242	B	0.36766	0.232	D	0.86776	0.1976	10	0.22109	T	0.4	-9.5699	5.8607	0.18745	0.125:0.0:0.6808:0.1942	.	269	Q8IW92	GLBL2_HUMAN	A	269	ENSP00000344659:G269A;ENSP00000444628:G269A;ENSP00000374531:G269A	ENSP00000344659:G269A	G	+	2	0	GLB1L2	133742362	0.633000	0.27181	0.612000	0.29024	0.735000	0.41995	1.305000	0.33493	1.290000	0.44636	0.655000	0.94253	GGG		PASS	0.547	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	Missense_Mutation	24	4	24	4	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2757671	2757671	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:2757671A>T	ENST00000347598.4	+	33	4087	c.4087A>T	c.(4087-4089)Atg>Ttg	p.M1363L	CACNA1C_ENST00000399644.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399655.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M1335L|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M1340L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M1315L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M1343L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M1315L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1363					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.M1315L(2)|p.M850L(1)|p.M1393L(1)|p.M1363L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTCCCTCTATGGTAAGACC	0.552																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(4087-4089)ATG>TTG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						146.0	145.0	146.0					12																	2757671		1942	4142	6084	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2757671A>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4087A>T	12.37:g.2757671A>T	ENSP00000266376:p.Met1363Leu					CACNA1C_uc009zdv.1_Missense_Mutation_p.M1312L|CACNA1C_uc001qkb.2_Missense_Mutation_p.M1315L|CACNA1C_uc001qkc.2_Missense_Mutation_p.M1315L|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Missense_Mutation_p.M1315L|CACNA1C_uc001qkd.2_Missense_Mutation_p.M1315L|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Missense_Mutation_p.M1315L|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Missense_Mutation_p.M1363L|CACNA1C_uc001qkn.2_Missense_Mutation_p.M1315L|CACNA1C_uc001qko.2_Missense_Mutation_p.M1335L|CACNA1C_uc001qkp.2_Missense_Mutation_p.M1315L|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qku.2_Missense_Mutation_p.M1315L|CACNA1C_uc001qkq.2_Missense_Mutation_p.M1343L|CACNA1C_uc001qks.2_Missense_Mutation_p.M1315L|CACNA1C_uc001qkt.2_Missense_Mutation_p.M1315L|CACNA1C_uc001qki.1_Missense_Mutation_p.M1051L|CACNA1C_uc001qkj.1_Missense_Mutation_p.M1051L|CACNA1C_uc001qkk.1_Missense_Mutation_p.M1051L|CACNA1C_uc001qkm.1_Intron|CACNA1C_uc010sea.1_Intron	p.M1363L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	33	4400	+			1363			Extracellular (Potential).|IV.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4087A>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	7.327	0.618090	0.14129	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000327702;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95588	-3.6;-3.6;-3.58;-3.71;-3.58;-3.61;-3.5;-3.59;-3.65;-3.51;-3.6;-3.75;-3.44;-3.59;-3.56;-3.6;-3.51;-3.59	5.56	1.83	0.25207	Ion transport (1);	0.168133	0.53938	N	0.000050	D	0.84633	0.5515	N	0.10874	0.06	0.28696	N	0.904343	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.001;0.002;0.005;0.001;0.001;0.001;0.001;0.001;0.001;0.0;0.002;0.001;0.001;0.0;0.001;0.0;0.0;0.0	T	0.71777	-0.4490	10	0.07325	T	0.83	.	4.444	0.11588	0.6816:0.1287:0.0668:0.1229	.	1315;1312;1363;1315;1315;1315;1343;1315;1335;1315;1363;1315;1315;1315;1315;1315;1315;1315	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	1340;1315;1315;1343;1315;1315;1315;1315;1363;1335;1315;1315;1315;1315;1315;1315;1315;1315	ENSP00000336982:M1340L;ENSP00000382563:M1315L;ENSP00000382552:M1315L;ENSP00000382547:M1343L;ENSP00000382506:M1315L;ENSP00000382530:M1315L;ENSP00000382546:M1315L;ENSP00000382549:M1315L;ENSP00000266376:M1363L;ENSP00000382515:M1335L;ENSP00000382510:M1315L;ENSP00000341092:M1315L;ENSP00000329877:M1315L;ENSP00000385724:M1315L;ENSP00000382512:M1315L;ENSP00000382542:M1315L;ENSP00000382526:M1315L;ENSP00000385896:M1315L	ENSP00000329877:M1315L	M	+	1	0	CACNA1C	2627932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.682000	0.54656	0.442000	0.26555	0.533000	0.62120	ATG		PASS	0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		34	6	34	6	---	---	---	---
CRACR2A	84766	broad.mit.edu	37	12	3806145	3806146	+	Missense_Mutation	DNP	CC	CC	AA	rs71582873|rs200051200		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:3806145_3806146CC>AA	ENST00000252322.1	-	4	488_489	c.20_21GG>TT	c.(19-21)aGG>aTT	p.R7I	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.R7I|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.R7I	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		7			R -> G (in dbSNP:rs9788233).		activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R7I(2)|p.R7S(2)|p.R7M(2)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGGAGACTACCCTCCCGTCAGG	0.569																																						uc001qmj.2																			6	Substitution - Missense(6)		lung(6)	ovary(1)|pancreas(1)	2						c.(19-21)AGG>AGT|c.(19-21)AGG>ATG		EF-hand calcium binding domain 4B isoform c																																				SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3806145C>A|g.chr12:3806146C>A																												ENST00000252322.1:c.20_21delinsAA	12.37:g.3806145_3806146delinsAA	ENSP00000252322:p.Arg7Ile					EFCAB4B_uc010sen.1_Missense_Mutation_p.R7S|EFCAB4B_uc010seo.1_Missense_Mutation_p.R7S|EFCAB4B_uc010sen.1_Missense_Mutation_p.R7M|EFCAB4B_uc010seo.1_Missense_Mutation_p.R7M	p.R7S|p.R7M	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		4	593|592	-			7					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.21G>T|c.20G>T	CCDS8522.1																																																																																				PASS	0.569	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			11	4	11	4	---	---	---	---
SCNN1A	6337	broad.mit.edu	37	12	6483596	6483596	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:6483596G>A	ENST00000228916.2	-	2	452	c.354C>T	c.(352-354)atC>atT	p.I118I	SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Silent_p.I177I|SCNN1A_ENST00000396966.2_Silent_p.I118I|SCNN1A_ENST00000543768.1_Silent_p.I141I|SCNN1A_ENST00000358945.3_Silent_p.I118I|LTBR_ENST00000539925.1_5'Flank	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	118					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.I118I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGTTGAGGTTGATGTTGAGGC	0.582																																						uc001qnx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(352-354)ATC>ATT		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						255.0	218.0	230.0					12																	6483596		2203	4300	6503	SO:0001819	synonymous_variant	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6483596G>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.354C>T	12.37:g.6483596G>A						SCNN1A_uc001qnw.2_Silent_p.I177I|SCNN1A_uc010sfb.1_Silent_p.I141I|LTBR_uc010sfc.1_5'Flank	p.I118I	NM_001038	NP_001029	P37088	SCNNA_HUMAN			2	643	-			118			Extracellular (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.354C>T	CCDS8543.1																																																																																				PASS	0.582	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			11	25	11	25	---	---	---	---
CD4	920	broad.mit.edu	37	12	6927603	6927603	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:6927603C>T	ENST00000011653.4	+	8	1431	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	391					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)	p.S391S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CCACATGGTCCACCCCGGTGC	0.637																																						uc001qqv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1171-1173)TCC>TCT		CD4 antigen precursor							89.0	80.0	83.0					12																	6927603		2203	4300	6503	SO:0001819	synonymous_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6927603C>T	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1173C>T	12.37:g.6927603C>T						CD4_uc010sfj.1_Silent_p.S118S|CD4_uc009zfc.1_Silent_p.S212S|CD4_uc010sfk.1_Silent_p.S118S|CD4_uc010sfl.1_Silent_p.S118S|CD4_uc010sfm.1_Silent_p.S118S	p.S391S	NM_000616	NP_000607	P01730	CD4_HUMAN			8	1418	+		Myeloproliferative disorder(1001;0.0122)	391			Extracellular (Potential).		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	37	c.1173C>T	CCDS8562.1																																																																																				PASS	0.637	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		16	65	16	65	---	---	---	---
GPR162	27239	broad.mit.edu	37	12	6933862	6933862	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:6933862C>A	ENST00000311268.3	+	2	1585	c.798C>A	c.(796-798)tcC>tcA	p.S266S	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S266S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CCAAGACATCCCTGCAGGTCA	0.607																																						uc001qqw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(796-798)TCC>TCA		G protein-coupled receptor 162 isoform 2							65.0	64.0	64.0					12																	6933862		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933862C>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.798C>A	12.37:g.6933862C>A						LEPREL2_uc001qqz.1_5'Flank|GPR162_uc010sfn.1_Silent_p.S266S|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'UTR	p.S266S	NM_019858	NP_062832	Q16538	GP162_HUMAN			2	1333	+			266			Cytoplasmic (Potential).		Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.798C>A	CCDS8563.1																																																																																				PASS	0.607	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		33	26	33	26	---	---	---	---
A2M	2	broad.mit.edu	37	12	9242509	9242509	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:9242509G>A	ENST00000318602.7	-	21	3014	c.2707C>T	c.(2707-2709)Ctg>Ttg	p.L903L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	903					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.L903L(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)	TCAACCAACAGAGGCTTGATG	0.358																																						uc001qvk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(2707-2709)CTG>TTG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						60.0	56.0	58.0					12																	9242509		1843	4084	5927	SO:0001819	synonymous_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.chr12:9242509G>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.2707C>T	12.37:g.9242509G>A						A2M_uc009zgk.1_Silent_p.L753L	p.L903L	NM_000014	NP_000005	P01023	A2MG_HUMAN			21	2820	-			903					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.2707C>T	CCDS44827.1																																																																																				PASS	0.358	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		33	27	33	27	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9346700	9346700	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:9346700A>T	ENST00000261336.2	-	11	1255	c.1227T>A	c.(1225-1227)agT>agA	p.S409R	PZP_ENST00000381997.2_Missense_Mutation_p.S278R	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	409					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S278R(1)|p.S409R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TAACCGAGATACTGGTAGTAT	0.373																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(1225-1227)AGT>AGA		pregnancy-zone protein precursor							137.0	136.0	136.0					12																	9346700		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9346700A>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1227T>A	12.37:g.9346700A>T	ENSP00000261336:p.Ser409Arg					PZP_uc009zgl.2_Missense_Mutation_p.S278R	p.S409R	NM_002864	NP_002855					11	1256	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.1227T>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.310915	0.23821	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.34472	1.56;1.36	3.53	-4.2	0.03823	.	0.264710	0.24424	U	0.038657	T	0.21509	0.0518	L	0.39245	1.2	0.09310	N	1	P;B	0.40230	0.708;0.021	B;B	0.38378	0.272;0.025	T	0.13019	-1.0525	10	0.54805	T	0.06	.	5.5375	0.17020	0.2713:0.0:0.5477:0.1811	.	278;409	P20742-2;P20742	.;PZP_HUMAN	R	409;278	ENSP00000261336:S409R;ENSP00000371427:S278R	ENSP00000261336:S409R	S	-	3	2	PZP	9237967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.138000	0.03216	-0.716000	0.04962	0.455000	0.32223	AGT		PASS	0.373	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		48	58	48	58	---	---	---	---
KLRC4	8302	broad.mit.edu	37	12	10560282	10560282	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:10560282C>A	ENST00000309384.1	-	4	628	c.447G>T	c.(445-447)gtG>gtT	p.V149V	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.A141S	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	149					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)		p.V149V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TTCTTCGAAGCACAGGCCAGC	0.368																																						uc001qye.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)GTG>GTT		killer cell lectin-like receptor subfamily C,							172.0	175.0	174.0					12																	10560282		2203	4300	6503	SO:0001819	synonymous_variant	8302				cellular defense response	integral to membrane	binding|receptor activity	g.chr12:10560282C>A	U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.447G>T	12.37:g.10560282C>A						KLRK1_uc001qyc.2_5'UTR|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR	p.V149V	NM_013431	NP_038459	O43908	NKG2F_HUMAN			4	629	-			149			Extracellular (Potential).		O60851	Silent	SNP	ENST00000309384.1	37	c.447G>T	CCDS8624.1																																																																																				PASS	0.368	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1	NM_013431		75	191	75	191	---	---	---	---
TAS2R9	50835	broad.mit.edu	37	12	10961936	10961936	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:10961936C>A	ENST00000240691.2	-	1	831	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	247					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)	p.V247F(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACAAGAAAGACTGGGTAGTAC	0.463																																						uc001qyx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(739-741)GTC>TTC		taste receptor, type 2, member 9							117.0	112.0	114.0					12																	10961936		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10961936C>A	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.739G>T	12.37:g.10961936C>A	ENSP00000240691:p.Val247Phe					TAS2R8_uc010shh.1_5'Flank	p.V247F	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN			1	832	-			247			Helical; Name=6; (Potential).		Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.739G>T	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620607	0.28801	.	.	ENSG00000121381	ENST00000240691	T	0.33865	1.39	4.46	-0.656	0.11436	GPCR, rhodopsin-like superfamily (1);	0.771688	0.10223	U	0.700645	T	0.14700	0.0355	N	0.04355	-0.22	0.09310	N	1	B	0.28178	0.202	B	0.23716	0.048	T	0.18304	-1.0341	10	0.48119	T	0.1	.	4.8815	0.13681	0.5439:0.2832:0.0:0.1729	.	247	Q9NYW1	TA2R9_HUMAN	F	247	ENSP00000240691:V247F	ENSP00000240691:V247F	V	-	1	0	TAS2R9	10853203	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.834000	0.04391	-0.223000	0.09943	0.650000	0.86243	GTC		PASS	0.463	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			21	58	21	58	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18716391	18716391	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:18716391C>A	ENST00000266497.5	+	26	3776	c.3738C>A	c.(3736-3738)caC>caA	p.H1246Q	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.H1246Q|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.H1287Q			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1246	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.S1246R(1)|p.H1246Q(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAAACTTCACAGCCAACTTC	0.408																																						uc001rdt.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(3736-3738)CAC>CAA		phosphoinositide-3-kinase, class 2 gamma							75.0	71.0	72.0					12																	18716391		1884	4122	6006	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18716391C>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3738C>A	12.37:g.18716391C>A	ENSP00000266497:p.His1246Gln					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.H1287Q|PIK3C2G_uc010sic.1_Missense_Mutation_p.H1065Q	p.H1246Q	NM_004570	NP_004561	O75747	P3C2G_HUMAN			27	3854	+		Hepatocellular(102;0.194)	1246			PX.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3738C>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818472	0.50633	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.49720	0.77;0.77;0.77	4.44	0.465	0.16711	Phox homologous domain (5);	0.543154	0.19703	N	0.107997	T	0.51244	0.1663	L	0.34521	1.04	0.50313	D	0.999869	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.46871	-0.9160	10	0.59425	D	0.04	-16.7242	7.5583	0.27837	0.0:0.6237:0.0:0.3763	.	1286;1287;1246	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	Q	1246;1246;1287	ENSP00000404845:H1246Q;ENSP00000266497:H1246Q;ENSP00000445381:H1287Q	ENSP00000266497:H1246Q	H	+	3	2	PIK3C2G	18607658	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	0.991000	0.29654	0.079000	0.16929	-0.140000	0.14226	CAC		PASS	0.408	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		28	8	28	8	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20769273	20769273	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:20769273G>T	ENST00000359062.3	+	4	1419	c.1379G>T	c.(1378-1380)aGa>aTa	p.R460I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	460					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.R460I(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCAGTACGGAGAGACCGCAGC	0.537																																						uc001reh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1378-1380)AGA>ATA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						126.0	110.0	115.0					12																	20769273		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769273G>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1379G>T	12.37:g.20769273G>T	ENSP00000351957:p.Arg460Ile						p.R460I	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			4	1401	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	460					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1379G>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214587	0.79352	.	.	ENSG00000172572	ENST00000359062	T	0.54479	0.57	5.43	5.43	0.79202	.	0.219696	0.26510	N	0.023961	T	0.71031	0.3292	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70741	-0.4789	10	0.54805	T	0.06	.	19.5966	0.95541	0.0:0.0:1.0:0.0	.	460	Q14432	PDE3A_HUMAN	I	460	ENSP00000351957:R460I	ENSP00000351957:R460I	R	+	2	0	PDE3A	20660540	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	7.137000	0.77295	2.698000	0.92095	0.655000	0.94253	AGA		PASS	0.537	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			40	13	40	13	---	---	---	---
SSPN	8082	broad.mit.edu	37	12	26383792	26383792	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:26383792T>A	ENST00000242729.2	+	3	692	c.515T>A	c.(514-516)cTc>cAc	p.L172H	SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.L69H|RP11-283G6.5_ENST00000541940.1_RNA|SSPN_ENST00000540266.1_Missense_Mutation_p.L69H	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	172					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)		p.L172H(1)		kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TCGGAGCCGCTCAGCAGGACC	0.537																																						uc001rhe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)CTC>CAC		sarcospan isoform 1							148.0	128.0	135.0					12																	26383792		2203	4300	6503	SO:0001583	missense	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26383792T>A	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.515T>A	12.37:g.26383792T>A	ENSP00000242729:p.Leu172His					SSPN_uc001rhd.2_Missense_Mutation_p.L69H|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	p.L172H	NM_005086	NP_005077	Q14714	SSPN_HUMAN			3	615	+	Colorectal(261;0.0847)		172			Extracellular (Potential).		B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	c.515T>A	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.535463	0.85812	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067	T;T;T;T	0.02301	4.35;4.35;4.35;4.35	4.7	4.7	0.59300	.	0.118692	0.56097	D	0.000029	T	0.09158	0.0226	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	T	0.02064	-1.1220	10	0.72032	D	0.01	-7.1413	14.4975	0.67700	0.0:0.0:0.0:1.0	.	172	Q14714	SSPN_HUMAN	H	69;69;69;172;146	ENSP00000445360:L69H;ENSP00000442893:L69H;ENSP00000396087:L69H;ENSP00000242729:L172H	ENSP00000242729:L172H	L	+	2	0	SSPN	26275059	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.519000	0.81809	1.894000	0.54839	0.460000	0.39030	CTC		PASS	0.537	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		50	14	50	14	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26809298	26809298	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:26809298C>A	ENST00000381340.3	-	19	2792	c.2376G>T	c.(2374-2376)caG>caT	p.Q792H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	792					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.Q792H(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCACGGACTCCTGGGGATCCC	0.552																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(2374-2376)CAG>CAT		inositol 1,4,5-triphosphate receptor, type 2							71.0	74.0	73.0					12																	26809298		1999	4189	6188	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26809298C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2376G>T	12.37:g.26809298C>A	ENSP00000370744:p.Gln792His						p.Q792H	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			19	2793	-	Colorectal(261;0.0847)		792			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2376G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709565	0.68730	.	.	ENSG00000123104	ENST00000381340	D	0.92752	-3.1	4.62	2.8	0.32819	.	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93904	0.7191	10	0.48119	T	0.1	.	9.2593	0.37603	0.0:0.7651:0.0:0.2349	.	792	Q14571	ITPR2_HUMAN	H	792	ENSP00000370744:Q792H	ENSP00000370744:Q792H	Q	-	3	2	ITPR2	26700565	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.965000	0.29319	0.669000	0.31146	0.655000	0.94253	CAG		PASS	0.552	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		42	13	42	13	---	---	---	---
ALG10B	144245	broad.mit.edu	37	12	38714685	38714685	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:38714685A>G	ENST00000308742.4	+	3	1408	c.1092A>G	c.(1090-1092)caA>caG	p.Q364Q	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	364					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.Q364Q(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GAGTTTTTCAAAGATATGCAA	0.308																																						uc001rln.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1090-1092)CAA>CAG		asparagine-linked glycosylation 10 homolog B							74.0	79.0	77.0					12																	38714685		2201	4295	6496	SO:0001819	synonymous_variant	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714685A>G	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1092A>G	12.37:g.38714685A>G						ALG10B_uc001rlo.3_Silent_p.Q334Q|ALG10B_uc010skk.1_Silent_p.Q304Q	p.Q364Q	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN			3	1231	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	364			Extracellular (Potential).		B2RPF4	Silent	SNP	ENST00000308742.4	37	c.1092A>G	CCDS31772.1																																																																																				PASS	0.308	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		73	53	73	53	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40715839	40715839	+	Missense_Mutation	SNP	C	C	G	rs11564176	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:40715839C>G	ENST00000298910.7	+	36	5231	c.5173C>G	c.(5173-5175)Cga>Gga	p.R1725G		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1725					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.R1725G(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTTTTAGAACGAGCACTTCG	0.363																																						uc001rmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5173-5175)CGA>GGA		leucine-rich repeat kinase 2							60.0	62.0	61.0					12																	40715839		2203	4299	6502	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40715839C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5173C>G	12.37:g.40715839C>G	ENSP00000298910:p.Arg1725Gly					LRRK2_uc009zjw.2_Missense_Mutation_p.R563G|LRRK2_uc001rmi.2_Missense_Mutation_p.R558G	p.R1725G	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			36	5294	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1725					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5173C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289209	0.40494	.	.	ENSG00000188906	ENST00000298910	T	0.73258	-0.73	5.35	2.38	0.29361	.	0.242674	0.35936	N	0.002891	T	0.51007	0.1649	L	0.29908	0.895	0.37559	D	0.918996	B;B	0.29612	0.251;0.251	B;B	0.25614	0.062;0.039	T	0.42666	-0.9438	10	0.23302	T	0.38	.	6.7126	0.23286	0.2572:0.6093:0.0:0.1336	.	1725;1725	Q17RV3;Q5S007	.;LRRK2_HUMAN	G	1725	ENSP00000298910:R1725G	ENSP00000298910:R1725G	R	+	1	2	LRRK2	39002106	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.735000	0.38176	0.587000	0.29643	0.555000	0.69702	CGA		PASS	0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	62	4	62	---	---	---	---
PRICKLE1	144165	broad.mit.edu	37	12	42864063	42864063	+	Silent	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:42864063T>G	ENST00000455697.1	-	3	516	c.231A>C	c.(229-231)ccA>ccC	p.P77P	PRICKLE1_ENST00000552240.1_Silent_p.P77P|PRICKLE1_ENST00000445766.2_Silent_p.P77P|PRICKLE1_ENST00000548696.1_Silent_p.P77P|PRICKLE1_ENST00000345127.3_Silent_p.P77P	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	77	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P77P(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TATCATGTGGTGGTAACTGGT	0.403																																						uc010skv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(229-231)CCA>CCC		prickle homolog 1							110.0	100.0	103.0					12																	42864063		2203	4300	6503	SO:0001819	synonymous_variant	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42864063T>G	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.231A>C	12.37:g.42864063T>G						PRICKLE1_uc001rnl.2_Silent_p.P77P|PRICKLE1_uc010skw.1_Silent_p.P77P|PRICKLE1_uc001rnm.2_Silent_p.P77P|PRICKLE1_uc009zka.2_Silent_p.P73P	p.P77P	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	3	518	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		77			PET.		Q14C83|Q71QF8|Q96N00	Silent	SNP	ENST00000455697.1	37	c.231A>C	CCDS8742.1																																																																																				PASS	0.403	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			13	49	13	49	---	---	---	---
HDAC7	51564	broad.mit.edu	37	12	48185723	48185723	+	Silent	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:48185723C>G	ENST00000427332.2	-	14	1782	c.1626G>C	c.(1624-1626)ccG>ccC	p.P542P	HDAC7_ENST00000380610.4_Silent_p.P598P|HDAC7_ENST00000552960.1_Silent_p.P564P|HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000354334.3_Silent_p.P544P|HDAC7_ENST00000080059.7_Silent_p.P581P			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	542	Histone deacetylase.|Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.P542P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CGGCGTGCTCCGGGTGCCTGC	0.682																																						uc010slo.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(1741-1743)CCG>CCC		histone deacetylase 7 isoform a							14.0	16.0	15.0					12																	48185723		2200	4296	6496	SO:0001819	synonymous_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48185723C>G	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1626G>C	12.37:g.48185723C>G						HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Silent_p.P15P|HDAC7_uc001rqj.3_Silent_p.P544P|HDAC7_uc001rqk.3_Silent_p.P564P	p.P581P	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	14	1938	-			542			Histone deacetylase.|Transcription repression 2 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37	c.1743G>C		.	.	.	.	.	.	.	.	.	.	C	0.477	-0.881889	0.02530	.	.	ENSG00000061273	ENST00000548080	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52734	-0.8536	4	.	.	.	.	3.354	0.07163	0.1904:0.0842:0.2599:0.4655	.	.	.	.	P	22	.	.	R	-	2	0	HDAC7	46471990	0.000000	0.05858	0.033000	0.17914	0.210000	0.24377	-11.231000	0.00004	-3.984000	0.00084	-1.414000	0.01117	CGG		PASS	0.682	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			15	13	15	13	---	---	---	---
ANP32D	23519	broad.mit.edu	37	12	48866596	48866596	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:48866596T>C	ENST00000266594.1	+	1	149	c.149T>C	c.(148-150)aTc>aCc	p.I50T		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	50						nuclear matrix (GO:0016363)		p.I50T(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TTAAATACAATCAACATAGGC	0.393																																						uc010slt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(148-150)ATC>ACC		acidic nuclear phosphoprotein 32D							123.0	123.0	123.0					12																	48866596		2203	4300	6503	SO:0001583	missense	23519							g.chr12:48866596T>C	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.149T>C	12.37:g.48866596T>C	ENSP00000266594:p.Ile50Thr						p.I50T	NM_012404	NP_036536	O95626	AN32D_HUMAN			1	149	+			50			LRR 2.		Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	c.149T>C	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	T	9.138	1.012992	0.19277	.	.	ENSG00000139223	ENST00000266594	T	0.00408	7.54	1.57	0.227	0.15359	.	0.000000	0.85682	D	0.000000	T	0.00552	0.0018	M	0.92367	3.3	0.52501	D	0.999957	B	0.21520	0.057	B	0.26094	0.066	T	0.55003	-0.8208	10	0.56958	D	0.05	.	4.7858	0.13223	0.0:0.1946:0.0:0.8054	.	50	O95626	AN32D_HUMAN	T	50	ENSP00000266594:I50T	ENSP00000266594:I50T	I	+	2	0	ANP32D	47152863	1.000000	0.71417	0.015000	0.15790	0.053000	0.15095	5.101000	0.64566	-0.072000	0.12864	0.102000	0.15555	ATC		PASS	0.393	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		9	102	9	102	---	---	---	---
WNT10B	7480	broad.mit.edu	37	12	49364267	49364267	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:49364267C>T	ENST00000301061.4	-	2	394	c.46G>A	c.(46-48)Ggt>Agt	p.G16S	WNT10B_ENST00000407467.1_Missense_Mutation_p.G16S|WNT10B_ENST00000403957.1_Missense_Mutation_p.G16S	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	16					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.G16S(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AACAGGAGACCCGCGAGGCCC	0.687																																						uc001rss.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|lung(3)	7						c.(46-48)GGT>AGT		wingless-type MMTV integration site family,							16.0	25.0	22.0					12																	49364267		2199	4300	6499	SO:0001583	missense	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49364267C>T	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.46G>A	12.37:g.49364267C>T	ENSP00000301061:p.Gly16Ser					WNT10B_uc001rst.2_Missense_Mutation_p.G16S	p.G16S	NM_003394	NP_003385	O00744	WN10B_HUMAN			2	392	-			16					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	ENST00000301061.4	37	c.46G>A	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625972	0.46840	.	.	ENSG00000169884	ENST00000301061;ENST00000407467;ENST00000403957;ENST00000413630;ENST00000420388	T;D;D;T;T	0.84370	-0.98;-1.84;-1.82;-1.09;-0.78	4.72	4.72	0.59763	.	0.781386	0.12025	N	0.506527	T	0.74084	0.3670	N	0.14661	0.345	0.35404	D	0.791879	B;B	0.18741	0.03;0.0	B;B	0.10450	0.005;0.001	T	0.70795	-0.4775	10	0.22109	T	0.4	.	13.5602	0.61784	0.0:1.0:0.0:0.0	.	16;16	Q4VAJ4;O00744	.;WN10B_HUMAN	S	16	ENSP00000301061:G16S;ENSP00000384691:G16S;ENSP00000385980:G16S;ENSP00000398473:G16S;ENSP00000404896:G16S	ENSP00000301061:G16S	G	-	1	0	WNT10B	47650534	0.183000	0.23186	0.998000	0.56505	0.997000	0.91878	0.791000	0.26915	2.340000	0.79590	0.650000	0.86243	GGT		PASS	0.687	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		7	2	7	2	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49723186	49723186	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:49723186G>T	ENST00000257909.3	+	11	1189	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	TROAP_ENST00000551245.1_Missense_Mutation_p.W371C|TROAP_ENST00000547923.1_Missense_Mutation_p.W79C	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	371					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.W371C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGGCCCAGTGGCTGCGTGGTG	0.592																																						uc001rtx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1111-1113)TGG>TGT		tastin isoform 1							109.0	90.0	96.0					12																	49723186		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49723186G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1113G>T	12.37:g.49723186G>T	ENSP00000257909:p.Trp371Cys					TROAP_uc009zlh.2_Missense_Mutation_p.W371C|TROAP_uc001rty.2_Missense_Mutation_p.W79C	p.W371C	NM_005480	NP_005471	Q12815	TROAP_HUMAN			11	1280	+			371					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1113G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350266	0.24512	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	4.73	1.73	0.24493	.	1.069720	0.07195	N	0.856417	T	0.32585	0.0834	L	0.31926	0.97	0.19300	N	0.999972	B;B;B	0.16802	0.009;0.009;0.019	B;B;B	0.18561	0.007;0.007;0.022	T	0.29305	-1.0016	9	0.40728	T	0.16	2.2362	7.8017	0.29178	0.0:0.1517:0.5175:0.3307	.	371;79;371	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	C	371;371;79	.	ENSP00000257909:W371C	W	+	3	0	TROAP	48009453	0.007000	0.16637	0.026000	0.17262	0.019000	0.09904	0.398000	0.20899	0.226000	0.20979	-0.305000	0.09177	TGG		PASS	0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		11	40	11	40	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52200923	52200923	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:52200923C>A	ENST00000354534.6	+	27	5831	c.5653C>A	c.(5653-5655)Cca>Aca	p.P1885T	SCN8A_ENST00000545061.1_Missense_Mutation_p.P1844T|AC068987.1_ENST00000599343.1_5'Flank|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1885					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.P1885T(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GTCTTACGAGCCAATCACAAC	0.587																																						uc001ryw.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(5653-5655)CCA>ACA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						125.0	132.0	130.0					12																	52200923		2084	4224	6308	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200923C>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5653C>A	12.37:g.52200923C>A	ENSP00000346534:p.Pro1885Thr					uc001rzb.1_5'Flank	p.P1885T	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5831	+			1885					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5653C>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609491	0.66558	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96427	-4.01;-3.92	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98945	1.0792	10	0.87932	D	0	.	18.9611	0.92678	0.0:1.0:0.0:0.0	.	1885	Q9UQD0	SCN8A_HUMAN	T	1885;1844	ENSP00000346534:P1885T;ENSP00000440360:P1844T	ENSP00000346534:P1885T	P	+	1	0	SCN8A	50487190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.793000	0.96121	0.655000	0.94253	CCA		PASS	0.587	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		33	147	33	147	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52201149	52201149	+	Missense_Mutation	SNP	G	G	C	rs369346315		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:52201149G>C	ENST00000354534.6	+	27	6057	c.5879G>C	c.(5878-5880)cGg>cCg	p.R1960P	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1919P|AC068987.1_ENST00000599343.1_5'Flank|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1960					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.R1960P(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AAACAGCAGCGGGCAGAGGAA	0.448																																						uc001ryw.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(5878-5880)CGG>CCG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						27.0	30.0	29.0					12																	52201149		1889	4110	5999	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52201149G>C	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5879G>C	12.37:g.52201149G>C	ENSP00000346534:p.Arg1960Pro					uc001rzb.1_5'Flank	p.R1960P	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	6057	+			1960					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5879G>C	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730135	0.30684	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96136	-3.92;-3.9	4.93	4.93	0.64822	.	0.186792	0.47455	D	0.000224	D	0.91868	0.7426	N	0.22421	0.69	0.50467	D	0.999871	P	0.34864	0.473	B	0.36464	0.225	D	0.90388	0.4393	10	0.32370	T	0.25	.	18.7196	0.91688	0.0:0.0:1.0:0.0	.	1960	Q9UQD0	SCN8A_HUMAN	P	1960;1919	ENSP00000346534:R1960P;ENSP00000440360:R1919P	ENSP00000346534:R1960P	R	+	2	0	SCN8A	50487416	0.911000	0.30947	1.000000	0.80357	0.993000	0.82548	1.766000	0.38491	2.730000	0.93505	0.655000	0.94253	CGG		PASS	0.448	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		4	7	4	7	---	---	---	---
KRT84	3890	broad.mit.edu	37	12	52774941	52774941	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:52774941T>A	ENST00000257951.3	-	6	1192	c.1126A>T	c.(1126-1128)Aac>Tac	p.N376Y	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	376	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.N376Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCCGTATGTTGCGCAGGTTG	0.542																																						uc001sah.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1126-1128)AAC>TAC		keratin, hair, basic, 4							217.0	190.0	199.0					12																	52774941		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52774941T>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1126A>T	12.37:g.52774941T>A	ENSP00000257951:p.Asn376Tyr						p.N376Y	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1174	-	all_hematologic(5;0.12)		376			Rod.|Coil 2.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.1126A>T	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.164774	0.38217	.	.	ENSG00000161849	ENST00000257951	D	0.89196	-2.48	5.41	1.47	0.22746	Filament (1);	0.827418	0.10641	N	0.650988	D	0.87148	0.6105	M	0.67700	2.07	0.09310	N	1	B	0.21071	0.051	B	0.30316	0.114	T	0.77643	-0.2511	10	0.62326	D	0.03	.	6.6643	0.23032	0.0:0.1324:0.2312:0.6364	.	376	Q9NSB2	KRT84_HUMAN	Y	376	ENSP00000257951:N376Y	ENSP00000257951:N376Y	N	-	1	0	KRT84	51061208	0.000000	0.05858	0.593000	0.28771	0.958000	0.62258	0.700000	0.25601	0.005000	0.14708	0.460000	0.39030	AAC		PASS	0.542	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		104	57	104	57	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53004594	53004594	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:53004594G>T	ENST00000305748.3	-	7	1170	c.1136C>A	c.(1135-1137)gCt>gAt	p.A379D	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	379	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.A379D(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCGGCGTCAGCGATGGCCGT	0.652																																						uc001sas.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(1135-1137)GCT>GAT		keratin 73							55.0	49.0	51.0					12																	53004594		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53004594G>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1136C>A	12.37:g.53004594G>T	ENSP00000307014:p.Ala379Asp						p.A379D	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1171	-			379			Rod.|Coil 2.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1136C>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598109	0.46318	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	T;D	0.89552	-0.95;-2.53	5.62	5.62	0.85841	Filament (1);	0.000000	0.52532	D	0.000072	D	0.95579	0.8563	H	0.95328	3.655	0.09310	N	1	D	0.54397	0.966	P	0.61397	0.888	D	0.90759	0.4663	10	0.87932	D	0	.	14.4962	0.67688	0.0:0.2582:0.7418:0.0	.	379	Q86Y46	K2C73_HUMAN	D	379;124	ENSP00000307014:A379D;ENSP00000449081:A124D	ENSP00000307014:A379D	A	-	2	0	KRT73	51290861	0.045000	0.20229	0.037000	0.18230	0.328000	0.28507	2.275000	0.43399	2.826000	0.97356	0.561000	0.74099	GCT		PASS	0.652	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		32	13	32	13	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53671296	53671296	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:53671296G>T	ENST00000257934.4	+	10	2219	c.2128G>T	c.(2128-2130)Gag>Tag	p.E710*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.E710*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	710					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.E710*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGGTAACTTGGAGGAATTTGA	0.512																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(2128-2130)GAG>TAG		separase							80.0	75.0	77.0					12																	53671296		2203	4300	6503	SO:0001587	stop_gained	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53671296G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2128G>T	12.37:g.53671296G>T	ENSP00000257934:p.Glu710*					ESPL1_uc001scj.2_Nonsense_Mutation_p.E385*|ESPL1_uc010soe.1_5'Flank	p.E710*	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			10	2219	+			710						Nonsense_Mutation	SNP	ENST00000257934.4	37	c.2128G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590245	0.96590	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.18	4.21	0.49690	.	0.580414	0.19556	N	0.111443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	12.8082	0.57626	0.0923:0.0:0.9077:0.0	.	.	.	.	X	710;385;710	.	ENSP00000257934:E710X	E	+	1	0	ESPL1	51957563	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	2.269000	0.43346	2.699000	0.92147	0.655000	0.94253	GAG		PASS	0.512	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		5	35	5	35	---	---	---	---
ATP5G2	517	broad.mit.edu	37	12	54059154	54059154	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:54059154C>G	ENST00000549164.1	-	5	557	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ATP5G2_ENST00000394349.3_Missense_Mutation_p.E181Q|ATP5G2_ENST00000602871.1_Missense_Mutation_p.E124Q|ATP5G2_ENST00000338662.5_Missense_Mutation_p.E140Q|ATP5G2_ENST00000550241.1_Intron			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	124		Reversibly protonated during proton transport. {ECO:0000250}.			ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.E140Q(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CCCATGGCCTCCGAGAGGGCA	0.522																																						uc009znc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)GAG>CAG		ATP synthase, H+ transporting, mitochondrial F0							61.0	63.0	63.0					12																	54059154		2203	4300	6503	SO:0001583	missense	517				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr12:54059154C>G	X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.370G>C	12.37:g.54059154C>G	ENSP00000447317:p.Glu124Gln					ATP5G2_uc001sec.2_Missense_Mutation_p.E181Q|ATP5G2_uc001sed.2_Missense_Mutation_p.E140Q	p.E124Q	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN			6	1071	-			124			Helical; (Potential).	Reversibly protonated during proton transport (By similarity).	B3KQQ6	Missense_Mutation	SNP	ENST00000549164.1	37	c.370G>C		.	.	.	.	.	.	.	.	.	.	C	33	5.195404	0.94960	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	T;T;T	0.63096	-0.02;-0.02;-0.02	5.32	5.32	0.75619	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	D	0.86640	0.5981	H	0.97659	4.05	0.58432	D	0.99999	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.70487	0.942;0.969;0.947	D	0.90708	0.4625	10	0.87932	D	0	-29.0207	18.3142	0.90213	0.0:1.0:0.0:0.0	.	124;140;181	Q06055;Q06055-3;Q06055-2	AT5G2_HUMAN;.;.	Q	181;124;140	ENSP00000377878:E181Q;ENSP00000447317:E124Q;ENSP00000340315:E140Q	ENSP00000340315:E140Q	E	-	1	0	ATP5G2	52345421	1.000000	0.71417	0.975000	0.42487	0.953000	0.61014	7.579000	0.82511	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.522	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		5	34	5	34	---	---	---	---
INHBC	3626	broad.mit.edu	37	12	57843589	57843589	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:57843589A>G	ENST00000309668.2	+	2	970	c.843A>G	c.(841-843)ccA>ccG	p.P281P		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	281					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)	p.P281P(1)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGCAGTGCCCACTACACATAG	0.552																																						uc001snv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(841-843)CCA>CCG		inhibin beta C chain preproprotein							87.0	72.0	77.0					12																	57843589		2203	4300	6503	SO:0001819	synonymous_variant	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843589A>G		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.843A>G	12.37:g.57843589A>G							p.P281P	NM_005538	NP_005529	P55103	INHBC_HUMAN			2	970	+			281					A1L3Y2	Silent	SNP	ENST00000309668.2	37	c.843A>G	CCDS8938.1																																																																																				PASS	0.552	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		7	28	7	28	---	---	---	---
ARHGAP9	64333	broad.mit.edu	37	12	57868736	57868736	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:57868736A>T	ENST00000356411.2	-	13	1768	c.1630T>A	c.(1630-1632)Ttg>Atg	p.L544M	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L604M|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L525M|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L341M|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L525M|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L615M			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	544	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.L544M(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGTGATTCCAACTGGCAGCCG	0.547																																						uc001sod.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1843-1845)TTG>ATG		Rho GTPase activating protein 9 isoform 1							44.0	42.0	42.0					12																	57868736		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868736A>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1630T>A	12.37:g.57868736A>T	ENSP00000348782:p.Leu544Met					ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.L341M|ARHGAP9_uc001soa.2_Missense_Mutation_p.L214M|ARHGAP9_uc001sob.2_Missense_Mutation_p.L525M|ARHGAP9_uc001soc.2_Missense_Mutation_p.L525M|ARHGAP9_uc001soe.1_Missense_Mutation_p.L604M	p.L615M	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		16	2036	-			544			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1843T>A		.	.	.	.	.	.	.	.	.	.	A	20.2	3.950308	0.73787	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.58506	0.33;0.33;1.75;0.33;0.33;1.75	5.1	-1.43	0.08884	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000003	T	0.74336	0.3703	M	0.88031	2.925	0.43032	D	0.994609	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.994;0.992	D;D;D;D;D	0.91635	0.998;0.996;0.999;0.938;0.991	T	0.75411	-0.3327	10	0.87932	D	0	.	9.5966	0.39578	0.4833:0.0:0.5167:0.0	.	604;544;525;525;341	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	M	525;544;195;525;615;574;341;32	ENSP00000377380:L525M;ENSP00000348782:L544M;ENSP00000394307:L525M;ENSP00000377386:L615M;ENSP00000397950:L341M;ENSP00000448423:L32M	ENSP00000344852:L574M	L	-	1	2	ARHGAP9	56155003	0.053000	0.20554	0.994000	0.49952	0.854000	0.48673	0.165000	0.16564	-0.112000	0.11979	-0.263000	0.10527	TTG		PASS	0.547	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		21	14	21	14	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66700232	66700232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:66700232G>T	ENST00000247815.4	+	3	774	c.715G>T	c.(715-717)Gag>Tag	p.E239*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	239					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.E239*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGGTTCTAAAGAGATGTTGAA	0.363																																						uc001sti.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(715-717)GAG>TAG		helicase (DNA) B							117.0	121.0	120.0					12																	66700232		2203	4300	6503	SO:0001587	stop_gained	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66700232G>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.715G>T	12.37:g.66700232G>T	ENSP00000247815:p.Glu239*					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.E239*	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	3	743	+			239					A8K4C9|Q4G0T2|Q9H7L5	Nonsense_Mutation	SNP	ENST00000247815.4	37	c.715G>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335513	0.60853	.	.	ENSG00000127311	ENST00000247815	.	.	.	5.9	-6.02	0.02192	.	0.753271	0.13038	N	0.418768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0024	2.8613	0.05588	0.3152:0.2631:0.3327:0.0891	.	.	.	.	X	239	.	.	E	+	1	0	HELB	64986499	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.360000	0.02600	-0.735000	0.04837	-1.147000	0.01851	GAG		PASS	0.363	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			21	64	21	64	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78583938	78583938	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:78583938C>T	ENST00000397909.2	+	34	6403	c.6230C>T	c.(6229-6231)tCt>tTt	p.S2077F	NAV3_ENST00000266692.7_Missense_Mutation_p.S1878F|NAV3_ENST00000228327.6_Missense_Mutation_p.S2055F|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.S2055F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2077						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S2055F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATAACCAAATCTGGAAGGAAA	0.373										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6229-6231)TCT>TTT		neuron navigator 3							58.0	53.0	54.0					12																	78583938		1861	4086	5947	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583938C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6230C>T	12.37:g.78583938C>T	ENSP00000381007:p.Ser2077Phe	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S2055F|NAV3_uc010sub.1_Missense_Mutation_p.S1534F|NAV3_uc009zsf.2_Missense_Mutation_p.S886F	p.S2077F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			34	6403	+			2077					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6230C>T		.	.	.	.	.	.	.	.	.	.	C	17.93	3.509292	0.64522	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.31247	1.59;1.59;1.58;1.5;2.39	4.55	4.55	0.56014	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.40064	U	0.001189	T	0.46639	0.1403	L	0.58583	1.82	0.80722	D	1	D;P;D;P	0.62365	0.983;0.815;0.991;0.926	P;B;P;P	0.59546	0.842;0.235;0.859;0.778	T	0.47886	-0.9082	10	0.72032	D	0.01	-6.0563	13.4335	0.61071	0.0:0.8423:0.1577:0.0	.	2055;1878;2077;2055	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	F	2055;2077;2055;1878;669;677	ENSP00000446132:S2055F;ENSP00000381007:S2077F;ENSP00000228327:S2055F;ENSP00000266692:S1878F;ENSP00000448303:S677F	ENSP00000228327:S2055F	S	+	2	0	NAV3	77108069	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.848000	0.55903	2.245000	0.73994	0.467000	0.42956	TCT		PASS	0.373	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	34	7	34	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78593258	78593258	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:78593258G>T	ENST00000397909.2	+	37	6835	c.6662G>T	c.(6661-6663)tGg>tTg	p.W2221L	NAV3_ENST00000266692.7_Missense_Mutation_p.W2022L|NAV3_ENST00000228327.6_Missense_Mutation_p.W2199L|NAV3_ENST00000541270.1_Missense_Mutation_p.W51L|NAV3_ENST00000536525.2_Missense_Mutation_p.W2199L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2221						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.W2199L(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCGAAGACGTGGCATCATCTC	0.363										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6661-6663)TGG>TTG		neuron navigator 3							107.0	106.0	106.0					12																	78593258		1865	4101	5966	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593258G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6662G>T	12.37:g.78593258G>T	ENSP00000381007:p.Trp2221Leu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.W2199L|NAV3_uc010sub.1_Missense_Mutation_p.W1678L|NAV3_uc009zsf.2_Missense_Mutation_p.W1030L	p.W2221L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			37	6835	+			2221					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6662G>T		.	.	.	.	.	.	.	.	.	.	G	28.1	4.894746	0.91962	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	T;T;T;T;T	0.58652	0.75;0.73;0.74;0.84;0.32	5.47	5.47	0.80525	.	0.000000	0.38272	U	0.001742	T	0.77405	0.4125	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.999;1.0	D;D;D;D	0.85130	0.99;0.991;0.993;0.997	T	0.74651	-0.3594	10	0.34782	T	0.22	-8.0449	19.6961	0.96026	0.0:0.0:1.0:0.0	.	2199;2022;2221;2199	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	2199;2221;2199;2022;51	ENSP00000446132:W2199L;ENSP00000381007:W2221L;ENSP00000228327:W2199L;ENSP00000266692:W2022L;ENSP00000444918:W51L	ENSP00000228327:W2199L	W	+	2	0	NAV3	77117389	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.813000	0.99286	2.745000	0.94114	0.650000	0.86243	TGG		PASS	0.363	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		43	38	43	38	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81111114	81111114	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:81111114G>A	ENST00000228644.3	+	1	424	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	91	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.R91H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCCACTATGCGCGAGCGGAGG	0.617																																						uc001szg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)CGC>CAC		myogenic factor 5							44.0	41.0	42.0					12																	81111114		2203	4299	6502	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111114G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.272G>A	12.37:g.81111114G>A	ENSP00000228644:p.Arg91His						p.R91H	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	407	+			91			Basic motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.272G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403050	0.96030	.	.	ENSG00000111049	ENST00000228644	D	0.98362	-4.89	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98368	1.0552	10	0.87932	D	0	-14.4236	20.6208	0.99490	0.0:0.0:1.0:0.0	.	91	P13349	MYF5_HUMAN	H	91	ENSP00000228644:R91H	ENSP00000228644:R91H	R	+	2	0	MYF5	79635245	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	CGC		PASS	0.617	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		11	44	11	44	---	---	---	---
ALX1	8092	broad.mit.edu	37	12	85694949	85694949	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:85694949G>T	ENST00000316824.3	+	4	832	c.677G>T	c.(676-678)tGg>tTg	p.W226L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	226					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.W226L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AACAATTTGTGGGCAGGAAAT	0.363																																						uc001tae.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(676-678)TGG>TTG		cartilage paired-class homeoprotein 1							128.0	122.0	124.0					12																	85694949		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85694949G>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.677G>T	12.37:g.85694949G>T	ENSP00000315417:p.Trp226Leu						p.W226L	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	681	+			226					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.677G>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551801	0.45487	.	.	ENSG00000180318	ENST00000316824	D	0.94376	-3.41	5.99	5.99	0.97316	.	0.109612	0.64402	D	0.000002	D	0.96340	0.8806	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95945	0.8950	10	0.66056	D	0.02	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	226	Q15699	ALX1_HUMAN	L	226	ENSP00000315417:W226L	ENSP00000315417:W226L	W	+	2	0	ALX1	84219080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	TGG		PASS	0.363	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		38	35	38	35	---	---	---	---
NTS	4922	broad.mit.edu	37	12	86272298	86272298	+	Missense_Mutation	SNP	T	T	C	rs141571076		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:86272298T>C	ENST00000256010.6	+	3	418	c.311T>C	c.(310-312)aTa>aCa	p.I104T	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	104					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)		p.I104T(1)		large_intestine(2)|lung(6)	8						ATGTTGACAATATACCAGCTC	0.398																																						uc001tag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)ATA>ACA		neurotensin/neuromedin N preproprotein		T	THR/ILE	0,4406		0,0,2203	94.0	92.0	92.0		311	5.3	1.0	12	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NTS	NM_006183.4	89	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign	104/171	86272298	2,13004	2203	4300	6503	SO:0001583	missense	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86272298T>C		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.311T>C	12.37:g.86272298T>C	ENSP00000256010:p.Ile104Thr						p.I104T	NM_006183	NP_006174	P30990	NEUT_HUMAN			3	418	+			104						Missense_Mutation	SNP	ENST00000256010.6	37	c.311T>C	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505138	0.44558	0.0	2.33E-4	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.32	5.32	0.75619	.	0.349959	0.32503	N	0.006015	T	0.52597	0.1744	L	0.40543	1.245	0.35368	D	0.788776	B	0.24426	0.103	B	0.29862	0.108	T	0.61312	-0.7088	9	0.48119	T	0.1	-12.9927	15.2927	0.73879	0.0:0.0:0.0:1.0	.	104	P30990	NEUT_HUMAN	T	104;49	.	ENSP00000256010:I104T	I	+	2	0	NTS	84796429	0.962000	0.33011	0.995000	0.50966	0.995000	0.86356	5.606000	0.67641	2.005000	0.58758	0.460000	0.39030	ATA		PASS	0.398	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2			29	71	29	71	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88554483	88554483	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:88554483G>T	ENST00000266712.6	+	6	872	c.652G>T	c.(652-654)Gct>Tct	p.A218S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	218					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.A218S(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATGTACTACTGCTGGACAGTT	0.338																																						uc001tau.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(652-654)GCT>TCT		transmembrane and tetratricopeptide repeat							140.0	135.0	136.0					12																	88554483		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88554483G>T		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.652G>T	12.37:g.88554483G>T	ENSP00000266712:p.Ala218Ser					TMTC3_uc009zsm.2_RNA	p.A218S	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			6	872	+			218					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.652G>T	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937294	0.34189	.	.	ENSG00000139324	ENST00000266712;ENST00000551088	T	0.61627	0.09	5.38	5.38	0.77491	.	0.178082	0.51477	D	0.000100	T	0.42562	0.1208	L	0.27053	0.805	0.38061	D	0.936089	B	0.25105	0.118	B	0.26969	0.075	T	0.36286	-0.9754	10	0.13108	T	0.6	-4.3452	12.8039	0.57601	0.0751:0.0:0.9249:0.0	.	218	Q6ZXV5-2	.	S	218;145	ENSP00000266712:A218S	ENSP00000266712:A218S	A	+	1	0	TMTC3	87078614	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.132000	0.42083	2.683000	0.91414	0.579000	0.79373	GCT		PASS	0.338	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		21	73	21	73	---	---	---	---
CLLU1OS	574016	broad.mit.edu	37	12	92821902	92821902	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:92821902G>T	ENST00000378487.2	-	1	22	c.21C>A	c.(19-21)aaC>aaA	p.N7K	CLLU1OS_ENST00000538965.1_Missense_Mutation_p.N7K|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron|CLLU1_ENST00000472839.2_Intron	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	7								p.N7K(1)		large_intestine(1)|lung(7)	8						ccttaagttcgttgtgcccca	0.423																																						uc001tcb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)AAC>AAA		chronic lymphocytic leukemia up-regulated 1							240.0	200.0	214.0					12																	92821902		2203	4300	6503	SO:0001583	missense	574016							g.chr12:92821902G>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.21C>A	12.37:g.92821902G>T	ENSP00000367748:p.Asn7Lys					CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron|CLLU1_uc001tcf.2_Intron	p.N7K	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN			1	23	-			7						Missense_Mutation	SNP	ENST00000378487.2	37	c.21C>A	CCDS31871.1	.	.	.	.	.	.	.	.	.	.	G	3.108	-0.183230	0.06340	.	.	ENSG00000205057	ENST00000378487;ENST00000538965	.	.	.	2.81	0.335	0.15953	.	.	.	.	.	T	0.16471	0.0396	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20840	-1.0263	8	0.87932	D	0	.	3.2355	0.06763	0.0:0.1404:0.2529:0.6067	.	7	Q5K130	CLU1O_HUMAN	K	7	.	ENSP00000367748:N7K	N	-	3	2	CLLU1OS	91346033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.080000	0.14802	0.065000	0.16485	-0.391000	0.06502	AAC		PASS	0.423	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			12	62	12	62	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451504	100451504	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:100451504C>A	ENST00000279907.7	-	15	3481	c.3269G>T	c.(3268-3270)tGc>tTc	p.C1090F	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.C740F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1090								p.C1090F(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTTGGGTGGGCAACGTTCCTT	0.318																																						uc001tgq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3268-3270)TGC>TTC		UHRF1 (ICBP90) binding protein 1-like isoform a							57.0	57.0	57.0					12																	100451504		2202	4300	6502	SO:0001583	missense	23074							g.chr12:100451504C>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3269G>T	12.37:g.100451504C>A	ENSP00000279907:p.Cys1090Phe					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.C740F	p.C1090F	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			15	3498	-			1090					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.3269G>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	8.965	0.971561	0.18736	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.17054	2.3;2.3	5.35	1.3	0.21679	.	0.541478	0.23235	N	0.050420	T	0.09335	0.0230	N	0.24115	0.695	0.80722	D	1	B	0.22604	0.072	B	0.17722	0.019	T	0.18398	-1.0338	10	0.52906	T	0.07	0.1274	4.0404	0.09748	0.2277:0.5355:0.1103:0.1265	.	1090	A0JNW5	UH1BL_HUMAN	F	1090;740	ENSP00000279907:C1090F;ENSP00000444824:C740F	ENSP00000279907:C1090F	C	-	2	0	UHRF1BP1L	98975635	0.998000	0.40836	0.800000	0.32199	0.988000	0.76386	0.436000	0.21526	0.023000	0.15187	-0.143000	0.13931	TGC		PASS	0.318	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		8	26	8	26	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101552093	101552093	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:101552093C>A	ENST00000536262.2	-	14	2202	c.1644G>T	c.(1642-1644)caG>caT	p.Q548H		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.Q548H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGTCTAAGTTCTGTTTTCTTC	0.333																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1642-1644)CAG>CAT		solute carrier family 5 (iodide transporter),							128.0	155.0	146.0					12																	101552093		2202	4298	6500	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101552093C>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1644G>T	12.37:g.101552093C>A	ENSP00000445340:p.Gln548His						p.Q548H	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			14	2034	-			548			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1644G>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174893	0.57692	.	.	ENSG00000256870	ENST00000536262	T	0.66815	-0.23	5.66	0.119	0.14685	.	0.456062	0.22873	N	0.054617	T	0.71978	0.3404	L	0.60455	1.87	0.35386	D	0.790374	D	0.71674	0.998	P	0.60012	0.867	T	0.75453	-0.3312	10	0.59425	D	0.04	.	10.6762	0.45787	0.0:0.6309:0.0:0.3691	.	548	Q8N695	SC5A8_HUMAN	H	548	ENSP00000445340:Q548H	ENSP00000445340:Q548H	Q	-	3	2	SLC5A8	100076224	0.986000	0.35501	0.841000	0.33234	0.920000	0.55202	0.345000	0.19979	-0.297000	0.08934	0.555000	0.69702	CAG		PASS	0.333	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		26	79	26	79	---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101876641	101876641	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:101876641G>T	ENST00000551346.1	+	5	441	c.282G>T	c.(280-282)ctG>ctT	p.L94L	SPIC_ENST00000299272.5_Silent_p.L94L			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	94					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L94L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAACCAGCTGGTACAACCCA	0.393																																						uc001tid.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(280-282)CTG>CTT		Spi-C transcription factor (Spi-1/PU.1 related)							112.0	121.0	118.0					12																	101876641		2203	4300	6503	SO:0001819	synonymous_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101876641G>T	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.282G>T	12.37:g.101876641G>T						SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Silent_p.L93L	p.L94L	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			5	441	+			94						Silent	SNP	ENST00000551346.1	37	c.282G>T	CCDS9082.1																																																																																				PASS	0.393	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		33	130	33	130	---	---	---	---
PMCH	5367	broad.mit.edu	37	12	102591330	102591330	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:102591330G>T	ENST00000329406.4	-	1	293	c.219C>A	c.(217-219)ttC>ttA	p.F73L		NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	73					cell differentiation (GO:0030154)|feeding behavior (GO:0007631)|multicellular organismal development (GO:0007275)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)		p.F73L(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						CTTCGTTCATGAAACTGCTCT	0.348																																						uc001tjl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)TTC>TTA		pro-melanin-concentrating hormone							131.0	130.0	130.0					12																	102591330		2202	4300	6502	SO:0001583	missense	5367				cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity	g.chr12:102591330G>T	M57703	CCDS31885.1	12q23.2	2013-02-26			ENSG00000183395	ENSG00000183395		"""Endogenous ligands"""	9109	protein-coding gene	gene with protein product		176795				2149166	Standard	NM_002674		Approved	MCH	uc001tjl.3	P20382	OTTHUMG00000170479	ENST00000329406.4:c.219C>A	12.37:g.102591330G>T	ENSP00000332225:p.Phe73Leu						p.F73L	NM_002674	NP_002665	P20382	MCH_HUMAN			1	285	-			73					Q16044|Q8WVG0	Missense_Mutation	SNP	ENST00000329406.4	37	c.219C>A	CCDS31885.1	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129672	0.21041	.	.	ENSG00000183395	ENST00000329406	.	.	.	5.51	1.63	0.23807	.	0.119530	0.64402	D	0.000019	T	0.23451	0.0567	L	0.27053	0.805	0.30040	N	0.812669	B	0.06786	0.001	B	0.06405	0.002	T	0.10590	-1.0623	9	0.22109	T	0.4	.	5.5948	0.17321	0.2286:0.0:0.538:0.2334	.	73	P20382	MCH_HUMAN	L	73	.	ENSP00000332225:F73L	F	-	3	2	PMCH	101115460	0.571000	0.26659	0.996000	0.52242	0.689000	0.40095	0.992000	0.29667	0.706000	0.31912	0.650000	0.86243	TTC		PASS	0.348	PMCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409337.1	NM_002674		17	68	17	68	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103700042	103700042	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:103700042A>T	ENST00000378113.2	-	5	566	c.341T>A	c.(340-342)gTa>gAa	p.V114E	C12orf42_ENST00000548883.1_Missense_Mutation_p.V114E|C12orf42_ENST00000548048.1_Missense_Mutation_p.V47E|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	114								p.V114E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AACTGTGCTTACAGAACACCT	0.408																																						uc001tjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(340-342)GTA>GAA		hypothetical protein LOC374470							64.0	66.0	65.0					12																	103700042		1838	4083	5921	SO:0001583	missense	374470							g.chr12:103700042A>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.341T>A	12.37:g.103700042A>T	ENSP00000367353:p.Val114Glu					C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.V114E|C12orf42_uc001tju.2_Missense_Mutation_p.V19E	p.V114E	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			5	429	-			114					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.341T>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.103622	0.37145	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.34	-0.611	0.11601	.	0.827095	0.09888	N	0.742743	T	0.36110	0.0955	N	0.24115	0.695	0.09310	N	1	P	0.34639	0.461	B	0.39562	0.303	T	0.34950	-0.9808	10	0.62326	D	0.03	-1.3781	2.3915	0.04379	0.4522:0.0:0.2138:0.334	.	114	Q96LP6	CL042_HUMAN	E	114;47;114;114	ENSP00000447908:V114E;ENSP00000449362:V47E;ENSP00000367353:V114E;ENSP00000447795:V114E	ENSP00000367353:V114E	V	-	2	0	C12orf42	102224172	0.001000	0.12720	0.001000	0.08648	0.045000	0.14185	0.721000	0.25911	-0.082000	0.12640	0.449000	0.29647	GTA		PASS	0.408	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		8	21	8	21	---	---	---	---
TDG	6996	broad.mit.edu	37	12	104376979	104376979	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:104376979C>A	ENST00000392872.3	+	6	914	c.680C>A	c.(679-681)gCa>gAa	p.A227E	TDG_ENST00000544861.1_Missense_Mutation_p.A84E|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Intron|TDG_ENST00000266775.9_Missense_Mutation_p.A223E	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	227					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.A227E(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CCACGAATAGCAGTGTTTAAT	0.249								Base excision repair (BER), DNA glycosylases																														uc001tkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(679-681)GCA>GAA	BER_DNA_glycosylases	thymine-DNA glycosylase							104.0	115.0	111.0					12																	104376979		2173	4281	6454	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104376979C>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.680C>A	12.37:g.104376979C>A	ENSP00000376611:p.Ala227Glu					TDG_uc009zuk.2_Missense_Mutation_p.A223E|TDG_uc010swi.1_Missense_Mutation_p.A84E|TDG_uc010swj.1_Intron	p.A227E	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	6	903	+			227					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.680C>A	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898357	0.91962	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76699	-0.2863	10	0.87932	D	0	-24.2317	19.1762	0.93603	0.0:1.0:0.0:0.0	.	227;227	B2R848;Q13569	.;TDG_HUMAN	E	227;223;84;220	ENSP00000376611:A227E;ENSP00000266775:A223E;ENSP00000445899:A84E;ENSP00000439825:A220E	ENSP00000266775:A223E	A	+	2	0	TDG	102901109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.518000	0.84900	0.563000	0.77884	GCA		PASS	0.249	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			53	170	53	170	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109696829	109696829	+	Missense_Mutation	SNP	G	G	T	rs145553418		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:109696829G>T	ENST00000338432.7	+	47	6531	c.6412G>T	c.(6412-6414)Gcc>Tcc	p.A2138S	ACACB_ENST00000377848.3_Missense_Mutation_p.A2138S|ACACB_ENST00000543201.1_Missense_Mutation_p.A804S|ACACB_ENST00000377854.5_Missense_Mutation_p.A2068S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2138	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.A2138S(1)|p.A804S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTACAAAACCGCCCAGGCCGT	0.572																																						uc001tob.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6412-6414)GCC>TCC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						160.0	160.0	160.0					12																	109696829		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109696829G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6412G>T	12.37:g.109696829G>T	ENSP00000341044:p.Ala2138Ser					ACACB_uc001toc.2_Missense_Mutation_p.A2138S|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.A804S	p.A2138S	NM_001093	NP_001084	O00763	ACACB_HUMAN			47	6531	+			2138			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.6412G>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883789	0.91814	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	5.07	5.07	0.68467	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.049103	0.85682	D	0.000000	D	0.98632	0.9542	M	0.88906	2.99	0.58432	D	0.999999	B	0.31125	0.309	B	0.43103	0.408	D	0.99643	1.0989	10	0.59425	D	0.04	.	19.3488	0.94376	0.0:0.0:1.0:0.0	.	2138	O00763	ACACB_HUMAN	S	2138;2138;2068;1369;804	ENSP00000341044:A2138S;ENSP00000367079:A2138S;ENSP00000367085:A2068S;ENSP00000444075:A804S	ENSP00000341044:A2138S	A	+	1	0	ACACB	108181212	1.000000	0.71417	0.963000	0.40424	0.916000	0.54674	4.502000	0.60400	2.758000	0.94735	0.561000	0.74099	GCC		PASS	0.572	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		85	101	85	101	---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109835560	109835560	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:109835560C>A	ENST00000431443.2	+	4	465	c.465C>A	c.(463-465)ctC>ctA	p.L155L	MYO1H_ENST00000310903.5_Silent_p.L155L	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	155	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L155L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCAGAACGCTCCGGAATGACA	0.408																																						uc010sxn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)CTC>CTA		myosin 1H							76.0	73.0	74.0					12																	109835560		1904	4166	6070	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109835560C>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.465C>A	12.37:g.109835560C>A							p.L155L	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			4	465	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.465C>A																																																																																					PASS	0.408	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		15	24	15	24	---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113314509	113314509	+	Missense_Mutation	SNP	G	G	A	rs144497607	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:113314509G>A	ENST00000389385.4	+	13	1506	c.1009G>A	c.(1009-1011)Ggg>Agg	p.G337R	RPH3A_ENST00000543106.2_Missense_Mutation_p.G337R|RPH3A_ENST00000551052.1_Missense_Mutation_p.G333R|RPH3A_ENST00000415485.3_Missense_Mutation_p.G337R|RPH3A_ENST00000548866.1_Missense_Mutation_p.G288R|RPH3A_ENST00000447659.2_Missense_Mutation_p.G288R|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.G337R	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	337	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.G333R(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGGGGGAGTCGGGGGCTACCC	0.652													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15854	0.0		0.0	False		,,,				2504	0.0					uc010syl.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1009-1011)GGG>AGG		rabphilin 3A homolog isoform 1		G	ARG/GLY,ARG/GLY	7,4399	11.4+/-27.6	0,7,2196	41.0	39.0	40.0		1009,997	3.5	0.0	12	dbSNP_134	40	0,8600		0,0,4300	yes	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	125,125	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging,possibly-damaging	337/695,333/691	113314509	7,12999	2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113314509G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1009G>A	12.37:g.113314509G>A	ENSP00000374036:p.Gly337Arg					RPH3A_uc001ttz.2_Missense_Mutation_p.G337R|RPH3A_uc001tty.2_Missense_Mutation_p.G333R|RPH3A_uc009zwe.1_Missense_Mutation_p.G333R|RPH3A_uc010sym.1_Missense_Mutation_p.G288R|RPH3A_uc001tua.2_Missense_Mutation_p.G97R	p.G337R	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	13	1371	+			337			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1009G>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560028	0.65538	0.001589	0.0	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.60672	0.18;0.18;0.17;0.18;0.18;0.17;0.18	5.36	3.54	0.40534	.	0.302177	0.23380	N	0.048804	T	0.47266	0.1436	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.30995	-0.9959	10	0.21014	T	0.42	.	9.4854	0.38926	0.1723:0.0:0.8277:0.0	.	288;337;337;333	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	R	337;337;288;333;337;288;337	ENSP00000440384:G337R;ENSP00000374036:G337R;ENSP00000413254:G288R;ENSP00000448297:G333R;ENSP00000405357:G337R;ENSP00000450347:G288R;ENSP00000408889:G337R	ENSP00000374036:G337R	G	+	1	0	RPH3A	111798892	0.962000	0.33011	0.011000	0.14972	0.071000	0.16799	3.494000	0.53273	0.638000	0.30545	0.511000	0.50034	GGG		PASS	0.652	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		7	27	7	27	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114836486	114836486	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:114836486G>T	ENST00000310346.4	-	5	1068	c.402C>A	c.(400-402)cgC>cgA	p.R134R	TBX5_ENST00000405440.2_Silent_p.R134R|TBX5_ENST00000526441.1_Silent_p.R134R|TBX5_ENST00000349716.5_Silent_p.R84R|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	134					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R134R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCACGTACAGGCGGCCAGGCA	0.617																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(400-402)CGC>CGA		T-box 5 isoform 1							50.0	43.0	45.0					12																	114836486		2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114836486G>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.402C>A	12.37:g.114836486G>T						TBX5_uc001tvp.2_Silent_p.R134R|TBX5_uc001tvq.2_Silent_p.R84R|TBX5_uc010syv.1_Silent_p.R134R	p.R134R	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	5	897	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		134			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.402C>A	CCDS9173.1																																																																																				PASS	0.617	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		6	15	6	15	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117726024	117726024	+	Splice_Site	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:117726024C>T	ENST00000338101.4	-	4	986	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	NOS1_ENST00000344089.3_Splice_Site_p.W346*|NOS1_ENST00000317775.6_Splice_Site_p.E328K			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.E328K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CATCCCGTTTCCTGGAAGATC	0.507																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(982-984)GAA>AAA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						108.0	105.0	106.0					12																	117726024		1949	4152	6101	SO:0001630	splice_region_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117726024C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.982-1G>A	12.37:g.117726024C>T							p.E328K	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	5	1668	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		328						Missense_Mutation	SNP	ENST00000338101.4	37	c.982G>A	CCDS55890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.300038|9.300038	0.99130|0.99130	.|.	.|.	ENSG00000089250|ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101|ENST00000344089	T;T|.	0.42513|.	0.97;0.97|.	5.93|5.93	4.86|4.86	0.63082|0.63082	Nitric oxide synthase, oxygenase domain (2);|.	0.580188|.	0.19005|.	N|.	0.125240|.	T|.	0.35970|.	0.0950|.	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	A|A	1|1	B|.	0.14012|.	0.009|.	B|.	0.11329|.	0.006|.	T|.	0.36578|.	-0.9742|.	9|.	0.07175|0.15952	T|T	0.84|0.53	-17.8936|-17.8936	10.3043|10.3043	0.43672|0.43672	0.0:0.7539:0.1279:0.1183|0.0:0.7539:0.1279:0.1183	.|.	328|.	P29475|.	NOS1_HUMAN|.	K|X	328|346	ENSP00000320758:E328K;ENSP00000337459:E328K|.	ENSP00000320758:E328K|ENSP00000339862:W346X	E|W	-|-	1|3	0|0	NOS1|NOS1	116210407|116210407	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.490000|0.490000	0.33462|0.33462	0.390000|0.390000	0.20768|0.20768	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	GAA|TGG		PASS	0.507	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		Missense_Mutation	21	54	21	54	---	---	---	---
ORAI1	84876	broad.mit.edu	37	12	122079195	122079195	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:122079195G>A	ENST00000330079.7	+	2	751	c.558G>A	c.(556-558)acG>acA	p.T186T		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	184					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.T186T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TCATCGGCACGCTGCTCTTCC	0.632																																						uc010szz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(550-552)ACG>ACA		calcium release-activated calcium channel							67.0	70.0	69.0					12																	122079195		2203	4300	6503	SO:0001819	synonymous_variant	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079195G>A	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.558G>A	12.37:g.122079195G>A							p.T184T	NM_032790	NP_116179	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	3	745	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		184			Helical; (Potential).		Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Silent	SNP	ENST00000330079.7	37	c.552G>A	CCDS41851.1																																																																																				PASS	0.632	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		7	41	7	41	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122862333	122862333	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:122862333C>A	ENST00000540338.1	-	2	301	c.260G>T	c.(259-261)tGg>tTg	p.W87L	CLIP1_ENST00000361654.4_Missense_Mutation_p.W87L|CLIP1_ENST00000302528.7_Missense_Mutation_p.W87L|CLIP1_ENST00000358808.2_Missense_Mutation_p.W87L|CLIP1_ENST00000537178.1_Missense_Mutation_p.W87L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	87	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.W87L(2)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AATTCCAGCCCACTGGCCTGG	0.468																																						uc001ucg.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(259-261)TGG>TTG		restin isoform a							107.0	108.0	108.0					12																	122862333		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862333C>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.260G>T	12.37:g.122862333C>A	ENSP00000439093:p.Trp87Leu					CLIP1_uc001uch.1_Missense_Mutation_p.W87L|CLIP1_uc001uci.1_Missense_Mutation_p.W87L|CLIP1_uc010tae.1_Missense_Mutation_p.W87L	p.W87L	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	2	366	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		87			CAP-Gly 1.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.260G>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090380	0.94149	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004;ENST00000535290	T;T;T;T;T;T;D	0.93019	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-3.15	5.68	5.68	0.88126	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97857	0.9296	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.98507	1.0617	10	0.87932	D	0	-7.719	19.791	0.96456	0.0:1.0:0.0:0.0	.	87;87;87;87	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	L	87	ENSP00000303585:W87L;ENSP00000351665:W87L;ENSP00000445531:W87L;ENSP00000439093:W87L;ENSP00000437786:W87L;ENSP00000441409:W87L;ENSP00000439472:W87L	ENSP00000303585:W87L	W	-	2	0	CLIP1	121428286	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.708000	0.84633	2.677000	0.91161	0.491000	0.48974	TGG		PASS	0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		116	97	116	97	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123687432	123687432	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:123687432G>A	ENST00000606320.1	-	10	1726	c.1520C>T	c.(1519-1521)cCa>cTa	p.P507L	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.P477L|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.P355L|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.P355L			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	507						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P355L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GGGATATTTTGGAAATCCAGG	0.428																																						uc001uel.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1063-1065)CCA>CTA		M-phase phosphoprotein 9							130.0	134.0	132.0					12																	123687432		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687432G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1520C>T	12.37:g.123687432G>A	ENSP00000475489:p.Pro507Leu					MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	p.P355L	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	6	1171	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		355					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.1064C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.070624	0.76301	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.34667	1.35;1.36	6.03	6.03	0.97812	.	0.449445	0.24162	N	0.040963	T	0.58352	0.2116	L	0.59436	1.845	0.58432	D	0.999998	D	0.63046	0.992	D	0.65874	0.939	T	0.51100	-0.8748	10	0.46703	T	0.11	-6.2568	20.5752	0.99366	0.0:0.0:1.0:0.0	.	355	Q99550	MPP9_HUMAN	L	355	ENSP00000303597:P355L;ENSP00000445859:P355L	ENSP00000303597:P355L	P	-	2	0	MPHOSPH9	122253385	1.000000	0.71417	0.947000	0.38551	0.293000	0.27360	4.872000	0.63050	2.868000	0.98415	0.557000	0.71058	CCA		PASS	0.428	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			67	70	67	70	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123687514	123687514	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:123687514G>A	ENST00000606320.1	-	10	1644	c.1438C>T	c.(1438-1440)Cta>Tta	p.L480L	MPHOSPH9_ENST00000541076.2_Silent_p.L450L|MPHOSPH9_ENST00000302349.5_Silent_p.L328L|MPHOSPH9_ENST00000392425.3_Silent_p.L328L			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	480						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L328L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTAGGCTCTAGAACAGAGTCC	0.448																																						uc001uel.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(982-984)CTA>TTA		M-phase phosphoprotein 9							114.0	121.0	118.0					12																	123687514		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687514G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1438C>T	12.37:g.123687514G>A						MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	p.L328L	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	6	1089	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		328					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.982C>T		.	.	.	.	.	.	.	.	.	.	G	8.291	0.817730	0.16607	.	.	ENSG00000257076	ENST00000539336	.	.	.	6.03	2.62	0.31277	.	.	.	.	.	T	0.44829	0.1312	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39231	-0.9624	4	.	.	.	-8.6397	2.5987	0.04861	0.1489:0.4065:0.3016:0.143	.	.	.	.	F	337	.	.	S	-	2	0	RP11-546D6.2	122253467	0.978000	0.34361	0.986000	0.45419	0.996000	0.88848	1.955000	0.40372	1.553000	0.49476	0.557000	0.71058	TCT		PASS	0.448	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			42	86	42	86	---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130648664	130648664	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:130648664G>T	ENST00000229030.4	+	1	1661	c.1177G>T	c.(1177-1179)Gcg>Tcg	p.A393S	FZD10_ENST00000539839.1_Missense_Mutation_p.R360L|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	393					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A393S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGACGTCAACGCGCTCACCGG	0.657																																						uc001uii.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)|central_nervous_system(1)	5						c.(1177-1179)GCG>TCG		frizzled 10 precursor							119.0	108.0	112.0					12																	130648664		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648664G>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1177G>T	12.37:g.130648664G>T	ENSP00000229030:p.Ala393Ser					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.A393S	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1633	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		393			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.1177G>T	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.16|15.16	2.752213|2.752213	0.49362|0.49362	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.82167|.	-1.58|.	5.21|5.21	5.21|5.21	0.72293|0.72293	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.75012|0.75012	0.3792|0.3792	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	D|.	0.55172|.	0.97|.	P|.	0.56398|.	0.797|.	T|T	0.77752|0.77752	-0.2470|-0.2470	10|6	0.27082|0.87932	T|D	0.32|0	.|.	18.7539|18.7539	0.91825|0.91825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	393|.	Q9ULW2|.	FZD10_HUMAN|.	S|L	393|360	ENSP00000229030:A393S|.	ENSP00000229030:A393S|ENSP00000438460:R360L	A|R	+|+	1|2	0|0	FZD10|FZD10	129214617|129214617	1.000000|1.000000	0.71417|0.71417	0.223000|0.223000	0.23860|0.23860	0.980000|0.980000	0.70556|0.70556	9.643000|9.643000	0.98464|0.98464	2.432000|2.432000	0.82394|0.82394	0.561000|0.561000	0.74099|0.74099	GCG|CGC		PASS	0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				37	30	37	30	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130892301	130892301	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr12:130892301G>T	ENST00000261655.4	-	16	3058	c.2895C>A	c.(2893-2895)ccC>ccA	p.P965P		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	965	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P965P(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCTTTCTCTGGGGTCGTAGT	0.552																																						uc001uil.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2893-2895)CCC>CCA		RIM-binding protein 2							464.0	354.0	391.0					12																	130892301		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130892301G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2895C>A	12.37:g.130892301G>T							p.P965P	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	16	3059	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	965			SH3 3.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2895C>A	CCDS31925.1																																																																																				PASS	0.552	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		123	129	123	129	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20024413	20024413	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:20024413G>T	ENST00000400230.2	-	12	918	c.874C>A	c.(874-876)Ccc>Acc	p.P292T	TPTE2_ENST00000457266.2_Missense_Mutation_p.P181T|TPTE2_ENST00000382977.4_Missense_Mutation_p.P292T|TPTE2_ENST00000382978.1_Missense_Mutation_p.P252T|TPTE2_ENST00000255310.6_Missense_Mutation_p.P215T|TPTE2_ENST00000400103.2_Missense_Mutation_p.P181T|TPTE2_ENST00000390680.2_Missense_Mutation_p.P215T|TPTE2_ENST00000382975.4_Missense_Mutation_p.P252T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	292	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P292T(1)|p.P215T(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGTAGAGTGGGGACATTATGA	0.294																																						uc001umd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(874-876)CCC>ACC		TPTE and PTEN homologous inositol lipid							62.0	69.0	67.0					13																	20024413		2203	4298	6501	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20024413G>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.874C>A	13.37:g.20024413G>T	ENSP00000383089:p.Pro292Thr					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.P181T|TPTE2_uc001ume.2_Missense_Mutation_p.P215T|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	p.P292T	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	13	1085	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	292			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.874C>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	12.36	1.916115	0.33815	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.99277	-5.67;-5.67;-5.67;-5.67;-5.67;-5.67;-5.67;-5.67	2.79	2.79	0.32731	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.98786	4.33	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.97318	0.9942	9	.	.	.	-17.3358	11.8009	0.52126	0.0:0.0:1.0:0.0	.	181;215;292	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	T	252;181;292;215;215;292;252;181;292;161	ENSP00000372438:P252T;ENSP00000382974:P181T;ENSP00000383089:P292T;ENSP00000255310:P215T;ENSP00000375098:P215T;ENSP00000372437:P292T;ENSP00000372435:P252T;ENSP00000442218:P181T	.	P	-	1	0	TPTE2	18922413	1.000000	0.71417	0.536000	0.28039	0.215000	0.24574	7.304000	0.78882	1.871000	0.54225	0.508000	0.49915	CCC		PASS	0.294	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		26	26	26	26	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25448297	25448297	+	Missense_Mutation	SNP	C	C	A	rs372193427		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:25448297C>A	ENST00000255324.5	+	33	4545	c.4493C>A	c.(4492-4494)gCg>gAg	p.A1498E	RNF17_ENST00000381921.1_Missense_Mutation_p.A1456E|RNF17_ENST00000339524.3_Missense_Mutation_p.A508E	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1498	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A1498E(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGTATAGAGCGAAGATTGTT	0.299																																						uc001upr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4492-4494)GCG>GAG		ring finger protein 17							122.0	117.0	118.0					13																	25448297		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25448297C>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4493C>A	13.37:g.25448297C>A	ENSP00000255324:p.Ala1498Glu					RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.A1494E|RNF17_uc001ups.2_Missense_Mutation_p.A1437E|RNF17_uc010aac.2_Missense_Mutation_p.A690E|RNF17_uc010aad.2_Missense_Mutation_p.A508E	p.A1498E	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	33	4534	+		Lung SC(185;0.0225)|Breast(139;0.077)	1498			Tudor 4.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4493C>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266164	0.80358	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.27	4.37	0.52481	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.53938	D	0.000049	T	0.53061	0.1773	M	0.84156	2.68	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.946;1.0	D;D;P;D	0.97110	1.0;1.0;0.687;1.0	T	0.59690	-0.7407	10	0.87932	D	0	-16.6819	13.5737	0.61862	0.1564:0.8436:0.0:0.0	.	1494;508;1492;1498	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	E	1498;1456;822;508	ENSP00000255324:A1498E;ENSP00000371346:A1456E;ENSP00000388892:A822E;ENSP00000344776:A508E	ENSP00000255324:A1498E	A	+	2	0	RNF17	24346297	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.361000	0.52306	2.461000	0.83175	0.484000	0.47621	GCG		PASS	0.299	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		20	20	20	20	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33704176	33704176	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:33704176C>A	ENST00000336934.5	-	5	754	c.638G>T	c.(637-639)gGc>gTc	p.G213V	STARD13_ENST00000399365.3_Missense_Mutation_p.G95V|STARD13_ENST00000255486.4_Missense_Mutation_p.G205V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	213					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.G213V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ACAGCACTGGCCCGGCTGGCT	0.637																																						uc001uuw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(637-639)GGC>GTC		StAR-related lipid transfer (START) domain							36.0	38.0	37.0					13																	33704176		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704176C>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.638G>T	13.37:g.33704176C>A	ENSP00000338785:p.Gly213Val					STARD13_uc001uuu.2_Missense_Mutation_p.G205V|STARD13_uc001uuv.2_Missense_Mutation_p.G95V|STARD13_uc001uux.2_Missense_Mutation_p.G178V|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.G198V	p.G213V	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	764	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	213					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.638G>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435372	0.12045	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06142	3.34;3.34;3.34	5.7	4.84	0.62591	.	0.143229	0.49916	D	0.000130	T	0.08582	0.0213	L	0.50333	1.59	0.42701	D	0.993611	B;B;B;B	0.15141	0.012;0.007;0.004;0.007	B;B;B;B	0.18871	0.023;0.011;0.009;0.011	T	0.08351	-1.0726	10	0.41790	T	0.15	.	13.2964	0.60298	0.4075:0.5925:0.0:0.0	.	205;178;213;205	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	V	95;205;213;205	ENSP00000382300:G95V;ENSP00000255486:G205V;ENSP00000338785:G213V	ENSP00000255486:G205V	G	-	2	0	STARD13	32602176	0.998000	0.40836	0.015000	0.15790	0.323000	0.28346	2.860000	0.48372	1.367000	0.46095	0.655000	0.94253	GGC		PASS	0.637	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		14	9	14	9	---	---	---	---
PROSER1	80209	broad.mit.edu	37	13	39597192	39597192	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:39597192G>A	ENST00000352251.3	-	8	1473	c.640C>T	c.(640-642)Cca>Tca	p.P214S	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.P192S	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	214	Pro-rich.							p.P214S(1)									TCCTTACTTGGTGCAATAGTT	0.368																																						uc001uwy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(640-642)CCA>TCA		hypothetical protein LOC80209 isoform 1							148.0	147.0	147.0					13																	39597192		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39597192G>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.640C>T	13.37:g.39597192G>A	ENSP00000332034:p.Pro214Ser					C13orf23_uc001uwz.2_Missense_Mutation_p.P192S	p.P214S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	8	1513	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	214			Pro-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.640C>T	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	31	5.093126	0.94149	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.66099	-0.13;-0.19	5.68	5.68	0.88126	.	.	.	.	.	T	0.77785	0.4182	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75811	-0.3186	8	.	.	.	.	18.7805	0.91930	0.0:0.0:1.0:0.0	.	192;214	A6NJ97;Q86XN7	.;PRSR1_HUMAN	S	214;192	ENSP00000332034:P214S;ENSP00000339123:P192S	.	P	-	1	0	PROSER1	38495192	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.006000	0.93592	2.693000	0.91896	0.655000	0.94253	CCA		PASS	0.368	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		30	12	30	12	---	---	---	---
KIAA0226L	80183	broad.mit.edu	37	13	46946479	46946479	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:46946479G>C	ENST00000429979.1	-	3	736	c.132C>G	c.(130-132)atC>atG	p.I44M	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.I44M|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.I44M|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.I44M|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.I44M	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	44								p.I44M(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCATGAGCCTGATGTCTAATT	0.552																																						uc010acl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)ATC>ATG		hypothetical protein LOC80183							82.0	70.0	74.0					13																	46946479		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46946479G>C	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.132C>G	13.37:g.46946479G>C	ENSP00000396935:p.Ile44Met					C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_Translation_Start_Site|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.I44M|C13orf18_uc001vbh.3_Missense_Mutation_p.I44M|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.I44M|C13orf18_uc010tga.1_Intron	p.I44M	NM_025113	NP_079389	Q9H714	CM018_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)	3	737	-		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	44					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.132C>G	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524320	0.44866	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T	0.55052	0.57;0.65;0.61;0.65;0.61;0.54	5.42	-0.331	0.12679	.	0.747816	0.11782	N	0.530030	T	0.40272	0.1110	L	0.38175	1.15	0.09310	N	1	P;B;P	0.36837	0.571;0.435;0.571	B;B;B	0.40134	0.32;0.111;0.32	T	0.34925	-0.9809	10	0.72032	D	0.01	-2.0235	4.1627	0.10291	0.3463:0.3611:0.2926:0.0	.	44;44;44	Q9H714-1;Q9H714;Q9H714-4	.;K226L_HUMAN;.	M	44	ENSP00000368057:I44M;ENSP00000396935:I44M;ENSP00000368074:I44M;ENSP00000374558:I44M;ENSP00000368064:I44M;ENSP00000414579:I44M	ENSP00000368057:I44M	I	-	3	3	KIAA0226L	45844480	0.074000	0.21230	0.002000	0.10522	0.037000	0.13140	0.758000	0.26447	-0.000000	0.14550	0.655000	0.94253	ATC		PASS	0.552	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		11	3	11	3	---	---	---	---
RCBTB1	55213	broad.mit.edu	37	13	50123776	50123776	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:50123776T>A	ENST00000378302.2	-	9	1123	c.863A>T	c.(862-864)gAg>gTg	p.E288V	RCBTB1_ENST00000258646.3_Missense_Mutation_p.E288V|RCBTB1_ENST00000546015.1_Missense_Mutation_p.E288V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	288					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E288V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCTGCAATCTCTACCACCCT	0.517																																						uc001vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(862-864)GAG>GTG		regulator of chromosome condensation (RCC1) and							63.0	58.0	60.0					13																	50123776		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50123776T>A	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.863A>T	13.37:g.50123776T>A	ENSP00000367552:p.Glu288Val						p.E288V	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	9	1124	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	288			RCC1 5.		Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.863A>T	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533182	0.85812	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.84730	-1.89;-1.89;-1.89	5.15	5.15	0.70609	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.90645	0.7066	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.89402	0.3696	10	0.30854	T	0.27	-21.6441	14.9777	0.71286	0.0:0.0:0.0:1.0	.	288	Q8NDN9	RCBT1_HUMAN	V	288	ENSP00000258646:E288V;ENSP00000367552:E288V;ENSP00000443293:E288V	ENSP00000258646:E288V	E	-	2	0	RCBTB1	49021777	1.000000	0.71417	0.985000	0.45067	0.950000	0.60333	7.698000	0.84413	1.939000	0.56221	0.379000	0.24179	GAG		PASS	0.517	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		21	8	21	8	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70370953	70370953	+	Missense_Mutation	SNP	G	G	T	rs375869705		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:70370953G>T	ENST00000377844.4	-	7	2315	c.1556C>A	c.(1555-1557)aCa>aAa	p.T519K	KLHL1_ENST00000545028.1_Missense_Mutation_p.T326K	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	519					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.T519K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGTGTTCAATGTCTTTAAGCC	0.423																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1555-1557)ACA>AAA		kelch-like 1 protein							209.0	178.0	189.0					13																	70370953		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70370953G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1556C>A	13.37:g.70370953G>T	ENSP00000367075:p.Thr519Lys					KLHL1_uc010thm.1_Missense_Mutation_p.T458K	p.T519K	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	7	2350	-		Breast(118;0.000162)	519			Kelch 2.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1556C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283622	0.80803	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.77750	-1.12;-1.12	5.45	5.45	0.79879	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000002	D	0.82309	0.5009	N	0.25332	0.735	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81195	-0.1043	10	0.37606	T	0.19	.	19.6558	0.95837	0.0:0.0:1.0:0.0	.	519;519	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	K	519;326	ENSP00000367075:T519K;ENSP00000439602:T326K	ENSP00000367075:T519K	T	-	2	0	KLHL1	69268954	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.813000	0.99286	2.719000	0.93026	0.655000	0.94253	ACA		PASS	0.423	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		37	17	37	17	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73428239	73428239	+	Missense_Mutation	SNP	G	G	A	rs141453174		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:73428239G>A	ENST00000326291.6	+	10	1606	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	AL391384.1_ENST00000408054.1_RNA	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	423						centrosome (GO:0005813)		p.R423Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GAAAAGGAACGAGCAGTGATG	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		18074	0.001		0.0	False		,,,				2504	0.0					uc001vjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1267-1269)CGA>CAA		progesterone-induced blocking factor 1							111.0	114.0	113.0					13																	73428239		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73428239G>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1268G>A	13.37:g.73428239G>A	ENSP00000317144:p.Arg423Gln					PIBF1_uc001vja.1_Missense_Mutation_p.R423Q|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.R423Q|PIBF1_uc010aep.2_Intron	p.R423Q	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	10	1573	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	423					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1268G>A	CCDS31991.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	26.6	4.748642	0.89753	.	.	ENSG00000083535	ENST00000326291	T	0.24538	1.85	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	M	0.74258	2.255	0.49582	D	0.999807	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.42155	-0.9468	10	0.18276	T	0.48	-1.046	16.9651	0.86283	0.0:0.0:1.0:0.0	.	423;423	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	Q	423	ENSP00000317144:R423Q	ENSP00000317144:R423Q	R	+	2	0	PIBF1	72326240	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.593000	0.74100	2.346000	0.79739	0.557000	0.71058	CGA		PASS	0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		13	23	13	23	---	---	---	---
ITGBL1	9358	broad.mit.edu	37	13	102366859	102366859	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:102366859G>A	ENST00000376180.3	+	10	1570	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	RP11-397O8.7_ENST00000606869.1_lincRNA|ITGBL1_ENST00000376162.3_Missense_Mutation_p.D358N|ITGBL1_ENST00000545560.2_Missense_Mutation_p.D310N	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	451	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.D451N(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGTGACTGTGATGACAGAGA	0.408																																						uc001vpb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1351-1353)GAT>AAT		integrin, beta-like 1 (with EGF-like repeat							400.0	373.0	382.0					13																	102366859		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102366859G>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1351G>A	13.37:g.102366859G>A	ENSP00000365351:p.Asp451Asn					ITGBL1_uc010agb.2_Missense_Mutation_p.D402N|ITGBL1_uc001vpc.3_Missense_Mutation_p.D310N	p.D451N	NM_004791	NP_004782	O95965	ITGBL_HUMAN			10	1570	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		451			IX.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1351G>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432054	0.96150	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.97752	-4.52;-4.52;-4.52	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.98232	0.9415	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.96450	0.9333	10	0.13108	T	0.6	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	310;451	B3KTP1;O95965	.;ITGBL_HUMAN	N	451;359;310;310;358	ENSP00000365351:D451N;ENSP00000439903:D310N;ENSP00000365332:D358N	ENSP00000365332:D358N	D	+	1	0	ITGBL1	101164860	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.408	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		49	25	49	25	---	---	---	---
TPP2	7174	broad.mit.edu	37	13	103288052	103288052	+	Splice_Site	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:103288052G>T	ENST00000376065.4	+	12	1545	c.1509G>T	c.(1507-1509)caG>caT	p.Q503H	TPP2_ENST00000376052.3_Splice_Site_p.Q503H	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	503	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.Q503H(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTATTATTCAGGTATTGTTGC	0.323																																						uc001vpi.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1507-1509)CAG>CAT		tripeptidyl peptidase II							83.0	84.0	84.0					13																	103288052		2203	4300	6503	SO:0001630	splice_region_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103288052G>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1509+1G>T	13.37:g.103288052G>T							p.Q503H	NM_003291	NP_003282	P29144	TPP2_HUMAN			12	1612	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		503					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.1509G>T	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177707	0.78564	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.44083	0.93;0.93	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.120018	0.64402	D	0.000008	T	0.67325	0.2881	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.67469	-0.5663	10	0.59425	D	0.04	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	503	P29144	TPP2_HUMAN	H	503	ENSP00000365233:Q503H;ENSP00000365220:Q503H	ENSP00000365220:Q503H	Q	+	3	2	TPP2	102086053	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	8.678000	0.91211	2.763000	0.94921	0.563000	0.77884	CAG		PASS	0.323	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		Missense_Mutation	13	8	13	8	---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111932896	111932896	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:111932896G>T	ENST00000375741.2	+	16	1910	c.1660G>T	c.(1660-1662)Gag>Tag	p.E554*	ARHGEF7_ENST00000375736.4_Nonsense_Mutation_p.E376*|ARHGEF7_ENST00000375737.5_Nonsense_Mutation_p.E451*|ARHGEF7_ENST00000317133.5_Nonsense_Mutation_p.E533*|ARHGEF7_ENST00000375723.1_Nonsense_Mutation_p.E376*|ARHGEF7_ENST00000218789.5_Nonsense_Mutation_p.E376*|ARHGEF7_ENST00000426073.2_Nonsense_Mutation_p.E376*|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000478679.1_Nonsense_Mutation_p.E298*|ARHGEF7_ENST00000370623.3_Nonsense_Mutation_p.E461*|ARHGEF7_ENST00000375739.2_Nonsense_Mutation_p.E504*	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	554	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E533*(1)|p.E376*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAGCATGATTGAGCGGATATT	0.512																																						uc001vrs.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1660-1662)GAG>TAG		PAK-interacting exchange factor beta isoform c							119.0	112.0	115.0					13																	111932896		2203	4300	6503	SO:0001587	stop_gained	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111932896G>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1660G>T	13.37:g.111932896G>T	ENSP00000364893:p.Glu554*					ARHGEF7_uc001vrr.2_Nonsense_Mutation_p.E533*|ARHGEF7_uc001vrt.2_Nonsense_Mutation_p.E504*|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Nonsense_Mutation_p.E376*|ARHGEF7_uc001vrv.3_Nonsense_Mutation_p.E376*|ARHGEF7_uc001vrw.3_Nonsense_Mutation_p.E376*|ARHGEF7_uc001vrx.3_Nonsense_Mutation_p.E376*|ARHGEF7_uc010tjo.1_Nonsense_Mutation_p.E451*|ARHGEF7_uc010tjp.1_Nonsense_Mutation_p.E298*|ARHGEF7_uc001vry.1_5'Flank	p.E554*	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		16	1910	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		554			PH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Nonsense_Mutation	SNP	ENST00000375741.2	37	c.1660G>T	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	39	7.733840	0.98459	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	.	.	.	5.03	4.18	0.49190	.	0.053941	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.0124	0.58739	0.0779:0.0:0.922:0.0	.	.	.	.	X	533;554;504;461;531;376;376;376;376;451;376;298	.	ENSP00000218789:E376X	E	+	1	0	ARHGEF7	110730897	1.000000	0.71417	0.702000	0.30337	0.839000	0.47603	8.911000	0.92721	1.109000	0.41680	0.557000	0.71058	GAG		PASS	0.512	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		33	55	33	55	---	---	---	---
GRK1	6011	broad.mit.edu	37	13	114325953	114325953	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr13:114325953G>T	ENST00000335678.6	+	3	1199	c.967G>T	c.(967-969)Gtg>Ttg	p.V323L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.V323L(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCCCGAGAACGTGCTGCTGGA	0.473																																						uc010tkf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(967-969)GTG>TTG		rhodopsin kinase precursor							16.0	18.0	18.0					13																	114325953		2046	4186	6232	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114325953G>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.967G>T	13.37:g.114325953G>T	ENSP00000334876:p.Val323Leu						p.V323L	NM_002929	NP_002920	Q15835	RK_HUMAN	all cancers(43;0.234)		3	1075	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	323			Protein kinase.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.967G>T		.	.	.	.	.	.	.	.	.	.	g	21.9	4.210488	0.79240	.	.	ENSG00000185974	ENST00000335678	T	0.23754	1.89	4.43	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062172	0.64402	D	0.000006	T	0.28863	0.0716	.	.	.	0.50313	D	0.999865	B	0.29835	0.258	B	0.36378	0.223	T	0.14868	-1.0457	9	0.59425	D	0.04	-38.1603	14.8991	0.70664	0.0:0.0:1.0:0.0	.	323	Q15835	RK_HUMAN	L	323	ENSP00000334876:V323L	ENSP00000334876:V323L	V	+	1	0	GRK1	113373954	1.000000	0.71417	0.983000	0.44433	0.759000	0.43091	6.942000	0.75928	2.148000	0.66965	0.506000	0.49869	GTG		PASS	0.473	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		4	8	4	8	---	---	---	---
OSGEP	55644	broad.mit.edu	37	14	20916116	20916116	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:20916116C>T	ENST00000206542.4	-	8	1161	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	OSGEP_ENST00000555656.1_Missense_Mutation_p.R48Q|OSGEP_ENST00000554249.1_Missense_Mutation_p.R65Q	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase									p.R247Q(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TGCCATGGCTCGCTCTGTGAT	0.458																																						uc001vxf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)CGA>CAA		O-sialoglycoprotein endopeptidase							103.0	106.0	105.0					14																	20916116		2203	4300	6503	SO:0001583	missense	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20916116C>T	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.740G>A	14.37:g.20916116C>T	ENSP00000206542:p.Arg247Gln						p.R247Q	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	8	1096	-	all_cancers(95;0.00123)	all_lung(585;0.235)	247						Missense_Mutation	SNP	ENST00000206542.4	37	c.740G>A	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176879	0.94846	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.71	4.71	0.59529	Peptidase M22, glycoprotease (1);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83375	0.0009	10	0.87932	D	0	-5.4092	16.4221	0.83766	0.0:1.0:0.0:0.0	.	247	Q9NPF4	OSGEP_HUMAN	Q	48;247;65;65;48	ENSP00000451784:R48Q;ENSP00000206542:R247Q;ENSP00000451548:R65Q;ENSP00000450464:R65Q;ENSP00000451787:R48Q	ENSP00000206542:R247Q	R	-	2	0	OSGEP	19985956	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.292000	0.78731	2.141000	0.66446	0.455000	0.32223	CGA		PASS	0.458	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	NM_017807		11	32	11	32	---	---	---	---
RNASE2	6036	broad.mit.edu	37	14	21424307	21424307	+	Missense_Mutation	SNP	C	C	A	rs199746668	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:21424307C>A	ENST00000304625.2	+	2	467	c.377C>A	c.(376-378)gCg>gAg	p.A126E		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	126					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.A126E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCAGGTATGCGCAGACACCA	0.458																																						uc010aif.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)GCG>GAG		ribonuclease, RNase A family, 2 (liver,							101.0	100.0	100.0					14																	21424307		2203	4298	6501	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424307C>A	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.377C>A	14.37:g.21424307C>A	ENSP00000303276:p.Ala126Glu					RNASE2_uc001vyl.1_Missense_Mutation_p.A126E	p.A126E	NM_002934	NP_002925	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	446	+	all_cancers(95;0.00381)		126					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.377C>A	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	c	9.225	1.034478	0.19590	.	.	ENSG00000169385	ENST00000304625	T	0.71461	-0.57	3.02	-6.03	0.02185	Ribonuclease A, domain (4);	3.289640	0.01599	U	0.021933	T	0.52370	0.1730	N	0.20530	0.585	0.09310	N	1	P	0.35542	0.508	B	0.35073	0.195	T	0.51140	-0.8743	10	0.49607	T	0.09	.	5.8781	0.18840	0.5184:0.2793:0.2022:0.0	.	126	P10153	RNAS2_HUMAN	E	126	ENSP00000303276:A126E	ENSP00000303276:A126E	A	+	2	0	RNASE2	20494147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.212000	0.01225	-1.559000	0.01688	0.455000	0.32223	GCG		PASS	0.458	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			44	14	44	14	---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24624472	24624472	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:24624472C>T	ENST00000324103.6	+	12	2557	c.2237C>T	c.(2236-2238)gCc>gTc	p.A746V	RNF31_ENST00000559275.1_Missense_Mutation_p.A595V|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.A221V|RNF31_ENST00000382687.3_Missense_Mutation_p.A595V	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	746					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A746V(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTGTGCCCTGCCTGTGGCCGC	0.582																																						uc001wmn.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2236-2238)GCC>GTC		ring finger protein 31							131.0	139.0	137.0					14																	24624472		2167	4262	6429	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24624472C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2237C>T	14.37:g.24624472C>T	ENSP00000315112:p.Ala746Val					RNF31_uc001wml.1_Missense_Mutation_p.A595V|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Missense_Mutation_p.A505V|RNF31_uc001wmo.1_Missense_Mutation_p.A213V|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_5'Flank	p.A746V	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	12	2486	+			746			RING-type; degenerate.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.2237C>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513099	0.64522	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.44482	0.92;0.92	6.07	5.17	0.71159	Zinc finger, RING-type (1);	0.137540	0.49305	D	0.000156	T	0.24509	0.0594	N	0.04203	-0.255	0.51482	D	0.999929	B;B;B	0.22800	0.002;0.018;0.075	B;B;B	0.21546	0.003;0.016;0.035	T	0.04693	-1.0933	10	0.28530	T	0.3	-8.903	16.3635	0.83296	0.0:0.8677:0.1323:0.0	.	505;746;595	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	V	188;746;595	ENSP00000315112:A746V;ENSP00000372134:A595V	ENSP00000315112:A746V	A	+	2	0	RNF31	23694312	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	1.870000	0.39529	1.561000	0.49584	0.655000	0.94253	GCC		PASS	0.582	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		35	25	35	25	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33292105	33292105	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:33292105G>T	ENST00000280979.4	+	13	5256	c.5086G>T	c.(5086-5088)Gag>Tag	p.E1696*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1696	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.E1696*(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGCAGTGACGAGCTCTCTCT	0.458																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Nonsense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(5086-5088)GAG>TAG		A-kinase anchor protein 6							103.0	95.0	98.0					14																	33292105		2203	4300	6503	SO:0001587	stop_gained	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292105G>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5086G>T	14.37:g.33292105G>T	ENSP00000280979:p.Glu1696*						p.E1696*	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5256	+	Breast(36;0.0388)|Prostate(35;0.15)		1696			Ser-rich.		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	c.5086G>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	45	11.451078	0.99562	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.98	5.98	0.97165	.	0.100424	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9771	20.4561	0.99145	0.0:0.0:1.0:0.0	.	.	.	.	X	1696	.	ENSP00000280979:E1696X	E	+	1	0	AKAP6	32361856	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.922000	0.92789	2.843000	0.97960	0.650000	0.86243	GAG		PASS	0.458	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		19	47	19	47	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36039857	36039857	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:36039857C>T	ENST00000389698.3	-	38	6334	c.5944G>A	c.(5944-5946)Gct>Act	p.A1982T	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1995T|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1982T|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.A2029T	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1982	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.A1982T(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GATTTCAGAGCACGGCTTGCA	0.368																																						uc001wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(5944-5946)GCT>ACT		Ral GTPase activating protein, alpha subunit 1							53.0	50.0	51.0					14																	36039857		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36039857C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5944G>A	14.37:g.36039857C>T	ENSP00000374348:p.Ala1982Thr					RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.A1982T|RALGAPA1_uc010tpv.1_Missense_Mutation_p.A1995T|RALGAPA1_uc010tpw.1_Missense_Mutation_p.A2029T	p.A1982T	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			38	6335	-			1982			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5944G>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646608	0.96704	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77;-3.77	5.96	5.96	0.96718	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;0.972	D;D;D;D	0.85130	0.997;0.997;0.971;0.946	D	0.97698	1.0183	10	0.46703	T	0.11	-16.4155	20.4008	0.98991	0.0:1.0:0.0:0.0	.	2029;1995;1982;1982	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	T	1982;1982;1982;2029;620;1995;2029	ENSP00000374348:A1982T;ENSP00000302647:A1982T;ENSP00000258840:A2029T;ENSP00000451133:A620T;ENSP00000371803:A1995T;ENSP00000451877:A2029T	ENSP00000258840:A2029T	A	-	1	0	RALGAPA1	35109608	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GCT		PASS	0.368	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		8	28	8	28	---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37969326	37969326	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:37969326C>A	ENST00000327441.7	+	13	1711	c.1245C>A	c.(1243-1245)gcC>gcA	p.A415A	MIPOL1_ENST00000556451.1_Silent_p.A384A|MIPOL1_ENST00000537471.1_Silent_p.A415A|MIPOL1_ENST00000396294.2_Silent_p.A415A|MIPOL1_ENST00000539062.2_Silent_p.A384A|MIPOL1_ENST00000536774.1_Silent_p.A234A|MIPOL1_ENST00000545536.1_Silent_p.A384A	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	415						nucleus (GO:0005634)		p.A415A(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CCCAAGTGGCCAATGAAAAAG	0.363																																						uc001wuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1243-1245)GCC>GCA		mirror-image polydactyly 1							62.0	60.0	61.0					14																	37969326		2203	4300	6503	SO:0001819	synonymous_variant	145282							g.chr14:37969326C>A	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.1245C>A	14.37:g.37969326C>A						MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Silent_p.A384A|MIPOL1_uc001wud.2_Silent_p.A415A|MIPOL1_uc010ams.2_Silent_p.A415A|MIPOL1_uc001wue.2_Silent_p.A384A|MIPOL1_uc010amt.2_Silent_p.A234A	p.A415A	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	13	1748	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		415			Potential.		D3DSA4|Q7Z3J0|Q8IV14	Silent	SNP	ENST00000327441.7	37	c.1245C>A	CCDS9664.1																																																																																				PASS	0.363	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		19	30	19	30	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47351344	47351344	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:47351344C>A	ENST00000399232.2	-	11	2476	c.2112G>T	c.(2110-2112)ttG>ttT	p.L704F	MDGA2_ENST00000426342.1_Missense_Mutation_p.L475F|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.L773F|MDGA2_ENST00000357362.3_Missense_Mutation_p.L475F	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	704	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L475F(2)|p.L773F(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTAGCTCTGTCAAGTTATATG	0.373																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2110-2112)TTG>TTT		MAM domain containing 1 isoform 1							63.0	60.0	61.0					14																	47351344		1826	4088	5914	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47351344C>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2112G>T	14.37:g.47351344C>A	ENSP00000382178:p.Leu704Phe					MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.L475F|MDGA2_uc010ani.2_Missense_Mutation_p.L264F	p.L704F	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			11	2308	-			704					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2112G>T		.	.	.	.	.	.	.	.	.	.	C	17.97	3.518734	0.64634	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.1	5.1	0.69264	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.41194	U	0.000924	T	0.65207	0.2669	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.98	T	0.67573	-0.5636	10	0.72032	D	0.01	.	7.0727	0.25187	0.1728:0.7391:0.0:0.0881	.	475;704	F6W3S7;Q7Z553	.;MDGA2_HUMAN	F	704;475;773;475	ENSP00000400011:L704F;ENSP00000405456:L475F;ENSP00000382178:L773F;ENSP00000349925:L475F	ENSP00000349925:L475F	L	-	3	2	MDGA2	46421094	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.073000	0.30691	2.547000	0.85894	0.467000	0.42956	TTG		PASS	0.373	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		12	18	12	18	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47426788	47426788	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:47426788G>T	ENST00000399232.2	-	9	2035	c.1671C>A	c.(1669-1671)gtC>gtA	p.V557V	SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000426342.1_Silent_p.V328V|MDGA2_ENST00000439988.3_Silent_p.V626V|MDGA2_ENST00000357362.3_Silent_p.V328V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	557	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V328V(2)|p.V626V(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AACTCATAGTGACACTTCGAT	0.458																																						uc001wwj.3																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1669-1671)GTC>GTA		MAM domain containing 1 isoform 1							94.0	93.0	93.0					14																	47426788		1965	4160	6125	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426788G>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1671C>A	14.37:g.47426788G>T						MDGA2_uc001wwi.3_Silent_p.V328V|MDGA2_uc010ani.2_Silent_p.V117V	p.V557V	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			9	1867	-			557			Ig-like 6.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1671C>A																																																																																					PASS	0.458	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		19	47	19	47	---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50597419	50597419	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:50597419C>T	ENST00000216373.5	-	20	3411	c.3137G>A	c.(3136-3138)gGc>gAc	p.G1046D	SOS2_ENST00000543680.1_Missense_Mutation_p.G1013D	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1046					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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1046D(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGAGGTAGAGCCATGTCGGCC	0.398																																						uc001wxs.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3136-3138)GGC>GAC		son of sevenless homolog 2							132.0	115.0	121.0					14																	50597419		2203	4300	6503	SO:0001583	missense	6655				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	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50597419C>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3137G>A	14.37:g.50597419C>T	ENSP00000216373:p.Gly1046Asp					SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.G1013D	p.G1046D	NM_006939	NP_008870	Q07890	SOS2_HUMAN			20	3235	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1046					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3137G>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177306	0.38413	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.78924	-1.22;-1.09	5.62	5.62	0.85841	.	0.343524	0.31709	N	0.007188	T	0.73783	0.3631	L	0.58810	1.83	0.48395	D	0.999649	B;B	0.33413	0.411;0.411	B;B	0.30105	0.111;0.072	T	0.75085	-0.3442	10	0.56958	D	0.05	.	14.4874	0.67626	0.1469:0.8531:0.0:0.0	.	1013;1046	B7ZKT6;Q07890	.;SOS2_HUMAN	D	1046;1013	ENSP00000216373:G1046D;ENSP00000445328:G1013D	ENSP00000216373:G1046D	G	-	2	0	SOS2	49667169	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.747000	0.47475	2.657000	0.90304	0.484000	0.47621	GGC		PASS	0.398	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			28	41	28	41	---	---	---	---
PYGL	5836	broad.mit.edu	37	14	51398395	51398395	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:51398395C>A	ENST00000216392.7	-	4	856	c.524G>T	c.(523-525)tGg>tTg	p.W175L	PYGL_ENST00000532462.1_Missense_Mutation_p.W175L|PYGL_ENST00000544180.2_Missense_Mutation_p.W141L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	175					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.W175L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	ACACACCTGCCATCCATCTCG	0.423																																						uc001wyu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(523-525)TGG>TTG		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						103.0	96.0	98.0					14																	51398395		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51398395C>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.524G>T	14.37:g.51398395C>A	ENSP00000216392:p.Trp175Leu					PYGL_uc010tqq.1_Missense_Mutation_p.W141L|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.W175L	p.W175L	NM_002863	NP_002854	P06737	PYGL_HUMAN			4	651	-	all_epithelial(31;0.00825)|Breast(41;0.148)		175					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.524G>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428356	0.83667	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.93133	-3.03;-3.03;-3.17	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91851	0.7421	L	0.39467	1.215	0.80722	D	1	P;B;P	0.36495	0.553;0.059;0.556	B;B;B	0.42030	0.373;0.088;0.28	D	0.91076	0.4896	10	0.46703	T	0.11	-0.1926	17.5932	0.88003	0.0:1.0:0.0:0.0	.	141;197;175	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	L	175;141;175	ENSP00000431657:W175L;ENSP00000443787:W141L;ENSP00000216392:W175L	ENSP00000216392:W175L	W	-	2	0	PYGL	50468145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.370000	0.79589	2.826000	0.97356	0.655000	0.94253	TGG		PASS	0.423	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		16	44	16	44	---	---	---	---
PELI2	57161	broad.mit.edu	37	14	56763638	56763638	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:56763638G>T	ENST00000267460.4	+	6	1303	c.1017G>T	c.(1015-1017)agG>agT	p.R339S		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	339					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.R339S(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CCATGTGCAGGACTGTGGGCC	0.592																																						uc001xch.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1015-1017)AGG>AGT		pellino 2							109.0	86.0	94.0					14																	56763638		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56763638G>T	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.1017G>T	14.37:g.56763638G>T	ENSP00000267460:p.Arg339Ser						p.R339S	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			6	1303	+			339					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.1017G>T	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333417	0.60853	.	.	ENSG00000139946	ENST00000267460	T	0.75821	-0.97	5.66	2.4	0.29515	.	0.000000	0.85682	D	0.000000	D	0.82568	0.5065	M	0.77313	2.365	0.50467	D	0.999872	D	0.62365	0.991	D	0.78314	0.991	T	0.80322	-0.1431	10	0.48119	T	0.1	-29.5	7.1968	0.25858	0.4449:0.0:0.5551:0.0	.	339	Q9HAT8	PELI2_HUMAN	S	339	ENSP00000267460:R339S	ENSP00000267460:R339S	R	+	3	2	PELI2	55833391	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	0.299000	0.19138	0.749000	0.32854	0.555000	0.69702	AGG		PASS	0.592	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			35	41	35	41	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59112968	59112968	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:59112968G>T	ENST00000335867.4	+	4	1651	c.1627G>T	c.(1627-1629)Gag>Tag	p.E543*	DACT1_ENST00000556859.1_Nonsense_Mutation_p.E262*|DACT1_ENST00000395153.3_Nonsense_Mutation_p.E506*|DACT1_ENST00000541264.2_Nonsense_Mutation_p.E262*			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	543					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.E543*(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTTCAAGAGCGAGGGCTCTTC	0.627																																						uc001xdw.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(1627-1629)GAG>TAG		dapper 1 isoform 1							45.0	53.0	50.0					14																	59112968		2203	4300	6503	SO:0001587	stop_gained	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112968G>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1627G>T	14.37:g.59112968G>T	ENSP00000337439:p.Glu543*					DACT1_uc010trv.1_Nonsense_Mutation_p.E262*|DACT1_uc001xdx.2_Nonsense_Mutation_p.E506*|DACT1_uc010trw.1_Nonsense_Mutation_p.E262*	p.E543*	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1791	+			543					A8MYJ2|Q86TY0	Nonsense_Mutation	SNP	ENST00000335867.4	37	c.1627G>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234547	0.95207	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	.	.	.	4.92	3.96	0.45880	.	0.432947	0.25154	N	0.032737	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.4653	14.6303	0.68650	0.0:0.1464:0.8536:0.0	.	.	.	.	X	262;262;506;543;262	.	ENSP00000337439:E543X	E	+	1	0	DACT1	58182721	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.356000	0.52269	2.285000	0.76669	0.563000	0.77884	GAG		PASS	0.627	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		37	34	37	34	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59113532	59113532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:59113532G>T	ENST00000335867.4	+	4	2215	c.2191G>T	c.(2191-2193)Gag>Tag	p.E731*	DACT1_ENST00000556859.1_Nonsense_Mutation_p.E450*|DACT1_ENST00000395153.3_Nonsense_Mutation_p.E694*|DACT1_ENST00000541264.2_Nonsense_Mutation_p.E450*			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	731					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.E731*(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCCGAGTGCGAGTCCCTGTT	0.647																																						uc001xdw.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(2191-2193)GAG>TAG		dapper 1 isoform 1							76.0	73.0	74.0					14																	59113532		2203	4300	6503	SO:0001587	stop_gained	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113532G>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2191G>T	14.37:g.59113532G>T	ENSP00000337439:p.Glu731*					DACT1_uc010trv.1_Nonsense_Mutation_p.E450*|DACT1_uc001xdx.2_Nonsense_Mutation_p.E694*|DACT1_uc010trw.1_Nonsense_Mutation_p.E450*	p.E731*	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	2355	+			731					A8MYJ2|Q86TY0	Nonsense_Mutation	SNP	ENST00000335867.4	37	c.2191G>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	38	6.822692	0.97865	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	.	.	.	5.37	5.37	0.77165	.	0.152822	0.44483	D	0.000445	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-26.704	19.1159	0.93338	0.0:0.0:1.0:0.0	.	.	.	.	X	450;450;694;731;450	.	ENSP00000337439:E731X	E	+	1	0	DACT1	58183285	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.478000	0.81082	2.508000	0.84585	0.563000	0.77884	GAG		PASS	0.647	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		21	40	21	40	---	---	---	---
AREL1	9870	broad.mit.edu	37	14	75134184	75134184	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:75134184C>A	ENST00000356357.4	-	16	2543	c.2028G>T	c.(2026-2028)gtG>gtT	p.V676V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	676	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V676V(1)									GGAAATGTTCCACCTCCTCTT	0.428																																						uc001xqb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(2026-2028)GTG>GTT		hypothetical protein LOC9870							107.0	106.0	106.0					14																	75134184		1877	4105	5982	SO:0001819	synonymous_variant	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75134184C>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2028G>T	14.37:g.75134184C>A						KIAA0317_uc010tut.1_Silent_p.V515V	p.V676V	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	16	2533	-			676			HECT.		B4E2C7|Q7LDY1|Q8IYY9	Silent	SNP	ENST00000356357.4	37	c.2028G>T	CCDS41971.1																																																																																				PASS	0.428	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		30	17	30	17	---	---	---	---
FCF1	51077	broad.mit.edu	37	14	75181615	75181615	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:75181615A>G	ENST00000341162.4	+	3	166	c.112A>G	c.(112-114)Aag>Gag	p.K38E	AREL1_ENST00000557401.1_5'Flank|SNORA7_ENST00000410672.1_RNA|AC007956.1_ENST00000338772.5_5'Flank|FCF1_ENST00000553615.1_Missense_Mutation_p.K23E|FCF1_ENST00000534938.2_Missense_Mutation_p.K26E|AREL1_ENST00000356357.4_5'Flank	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	38					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.K38E(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		GAAAGAAAAGAAGGATCCCAG	0.338																																						uc001xqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(112-114)AAG>GAG		FCF1 small subunit							34.0	34.0	34.0					14																	75181615		2203	4300	6503	SO:0001583	missense	51077				rRNA processing	nucleolus		g.chr14:75181615A>G	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.112A>G	14.37:g.75181615A>G	ENSP00000344393:p.Lys38Glu					KIAA0317_uc001xqb.2_5'Flank|KIAA0317_uc010tut.1_5'Flank|KIAA0317_uc001xqc.2_5'Flank|KIAA0317_uc001xqd.1_5'Flank|FCF1_uc001xqe.1_RNA|FCF1_uc001xqf.1_Missense_Mutation_p.K23E|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA	p.K38E	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0037)	3	163	+			38					Q86TW8|Q8TBL8	Missense_Mutation	SNP	ENST00000341162.4	37	c.112A>G	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270406	0.23221	.	.	ENSG00000119616	ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.73	4.58	0.56647	.	0.100690	0.64402	D	0.000001	T	0.27832	0.0685	N	0.10837	0.055	0.39623	D	0.970055	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.09271	-1.0682	9	0.11182	T	0.66	.	7.5508	0.27796	0.8331:0.0:0.1669:0.0	.	38;23	Q9Y324;G3V5S9	FCF1_HUMAN;.	E	38;26;23	.	ENSP00000344393:K38E	K	+	1	0	FCF1	74251368	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.798000	0.47884	1.101000	0.41535	0.454000	0.30748	AAG		PASS	0.338	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962		6	8	6	8	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75265978	75265978	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:75265978G>T	ENST00000325680.7	+	5	4102	c.3978G>T	c.(3976-3978)cgG>cgT	p.R1326R	YLPM1_ENST00000238571.3_Silent_p.R1131R|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1131					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R1131R(1)|p.R1326R(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCGTGAACGGGATATTCCAT	0.438																																						uc001xqj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(3976-3978)CGG>CGT		YLP motif containing 1							140.0	141.0	141.0					14																	75265978		1923	4126	6049	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265978G>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3978G>T	14.37:g.75265978G>T						YLPM1_uc001xql.3_RNA	p.R1326R	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4102	+			1131			Arg-rich.		P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	c.3978G>T	CCDS45135.1																																																																																				PASS	0.438	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		25	41	25	41	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75284933	75284933	+	Splice_Site	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:75284933G>A	ENST00000552421.1	+	15	3952		c.e15-1		YLPM1_ENST00000238571.3_Splice_Site|YLPM1_ENST00000325680.7_Splice_Site			P49750	YLPM1_HUMAN	YLP motif containing 1						regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.?(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTTTTCAATAGATGGCTGATC	0.363																																						uc001xqj.3																			2	Unknown(2)		lung(2)	ovary(2)|pancreas(1)	3						c.e16-1		YLP motif containing 1							89.0	82.0	84.0					14																	75284933		1886	4124	6010	SO:0001630	splice_region_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75284933G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3829-1G>A	14.37:g.75284933G>A						YLPM1_uc001xql.3_Splice_Site|YLPM1_uc001xqm.1_Splice_Site_p.M466_splice	p.M1983_splice	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	16	6071	+								P49752|Q96I64|Q9P1V7	Splice_Site	SNP	ENST00000552421.1	37	c.5947_splice		.	.	.	.	.	.	.	.	.	.	G	22.2	4.260478	0.80246	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879;ENST00000554107	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2226	0.93803	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YLPM1	74354686	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.476000	0.97823	2.548000	0.85928	0.650000	0.86243	.		PASS	0.363	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	Intron	11	6	11	6	---	---	---	---
GSTZ1	2954	broad.mit.edu	37	14	77791264	77791264	+	Splice_Site	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:77791264G>T	ENST00000556627.1	+	2	198	c.67G>T	c.(67-69)Gct>Tct	p.A23S	GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000557053.1_Intron|GSTZ1_ENST00000557639.1_Intron|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000553586.1_Splice_Site_p.A24S|GSTZ1_ENST00000216465.5_Splice_Site_p.A23S|GSTZ1_ENST00000349555.3_Splice_Site_p.A23S|GSTZ1_ENST00000554279.1_Splice_Site_p.A23S			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	23	GST N-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)	p.A23S(1)		lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	AGTTCGAATTGGTAAGAGATG	0.572																																						uc001xtj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GCT>TCT		glutathione transferase zeta 1 isoform 1	Glutathione(DB00143)						125.0	95.0	105.0					14																	77791264		2203	4300	6503	SO:0001630	splice_region_variant	2954				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	g.chr14:77791264G>T	U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.67+1G>T	14.37:g.77791264G>T						GSTZ1_uc001xtk.2_Missense_Mutation_p.A23S|GSTZ1_uc010ass.2_5'UTR|GSTZ1_uc001xtm.2_5'UTR	p.A23S	NM_145870	NP_665877	O43708	MAAI_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	2	349	+			23			GST N-terminal.		A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	ENST00000556627.1	37	c.67G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.219380	0.95139	.	.	ENSG00000100577	ENST00000216465;ENST00000554279;ENST00000349555;ENST00000556627;ENST00000553586	T;T;T;T;T	0.32023	1.47;2.37;1.47;1.47;1.47	5.59	5.59	0.84812	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.84511	2.7	0.80722	D	1	D;D	0.69078	0.997;0.987	D;D	0.69824	0.964;0.966	T	0.66081	-0.6012	10	0.87932	D	0	-5.7359	16.5049	0.84268	0.0:0.0:1.0:0.0	.	23;23	A6NED0;O43708	.;MAAI_HUMAN	S	23;23;23;23;24	ENSP00000216465:A23S;ENSP00000452498:A23S;ENSP00000314404:A23S;ENSP00000450487:A23S;ENSP00000451976:A24S	ENSP00000216465:A23S	A	+	1	0	GSTZ1	76861017	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	7.569000	0.82380	2.631000	0.89168	0.655000	0.94253	GCT		PASS	0.572	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414090.1	NM_145870	Missense_Mutation	29	24	29	24	---	---	---	---
CEP128	145508	broad.mit.edu	37	14	81251450	81251450	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:81251450T>A	ENST00000555265.1	-	15	2375	c.2000A>T	c.(1999-2001)gAc>gTc	p.D667V	CEP128_ENST00000281129.3_Missense_Mutation_p.D667V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	667						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.D667V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGCAGTGAGGTCAGAAAGGTC	0.478																																						uc001xux.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1999-2001)GAC>GTC		hypothetical protein LOC145508							235.0	188.0	204.0					14																	81251450		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81251450T>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2000A>T	14.37:g.81251450T>A	ENSP00000451162:p.Asp667Val					C14orf145_uc010asz.1_RNA	p.D667V	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	14	2171	-			667			Potential.		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2000A>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475133	0.43942	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.39997	1.05;1.05	6.15	6.15	0.99193	.	0.126644	0.51477	D	0.000086	T	0.48822	0.1521	L	0.46157	1.445	0.80722	D	1	D	0.57571	0.98	P	0.49922	0.626	T	0.48768	-0.9006	10	0.62326	D	0.03	.	16.7886	0.85580	0.0:0.0:0.0:1.0	.	667	Q6ZU80	CE128_HUMAN	V	667	ENSP00000281129:D667V;ENSP00000451162:D667V	ENSP00000281129:D667V	D	-	2	0	CEP128	80321203	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	6.422000	0.73357	2.363000	0.80096	0.523000	0.50628	GAC		PASS	0.478	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		50	85	50	85	---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92470935	92470935	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:92470935T>C	ENST00000267622.4	-	11	3758	c.3385A>G	c.(3385-3387)Aag>Gag	p.K1129E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1129					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.K1129E(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCTGCTTCCTTGGCAGCAACA	0.328			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3385-3387)AAG>GAG		thyroid hormone receptor interactor 11							75.0	71.0	72.0					14																	92470935		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470935T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3385A>G	14.37:g.92470935T>C	ENSP00000267622:p.Lys1129Glu					TRIP11_uc010auf.1_Missense_Mutation_p.K865E	p.K1129E	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4173	-			1129			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3385A>G	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.43|11.43	1.636353|1.636353	0.29068|0.29068	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.05382|.	3.45|.	5.27|5.27	4.13|4.13	0.48395|0.48395	.|.	0.052178|.	0.85682|.	D|.	0.000000|.	T|T	0.51669|0.51669	0.1688|0.1688	L|L	0.32530|0.32530	0.975|0.975	0.44754|0.44754	D|D	0.997756|0.997756	P;D|.	0.71674|.	0.875;0.998|.	B;D|.	0.69142|.	0.415;0.962|.	T|T	0.41734|0.41734	-0.9492|-0.9492	10|5	0.32370|.	T|.	0.25|.	.|.	10.9124|10.9124	0.47116|0.47116	0.0:0.0738:0.0:0.9262|0.0:0.0738:0.0:0.9262	.|.	865;1129|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	E|R	1129;865|844	ENSP00000267622:K1129E|.	ENSP00000267622:K1129E|.	K|Q	-|-	1|2	0|0	TRIP11|TRIP11	91540688|91540688	1.000000|1.000000	0.71417|0.71417	0.643000|0.643000	0.29450|0.29450	0.002000|0.002000	0.02628|0.02628	7.994000|7.994000	0.88315|0.88315	0.845000|0.845000	0.35118|0.35118	-0.371000|-0.371000	0.07208|0.07208	AAG|CAA		PASS	0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			21	24	21	24	---	---	---	---
ITPK1	3705	broad.mit.edu	37	14	93483148	93483148	+	Splice_Site	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:93483148T>A	ENST00000267615.6	-	4	294		c.e4-2		ITPK1_ENST00000555495.1_Splice_Site|ITPK1_ENST00000556954.1_Splice_Site|ITPK1_ENST00000354313.3_Splice_Site|ITPK1_ENST00000556603.2_Splice_Site			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.?(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		AAGGTTCAGCTGTGAGGCAGG	0.577																																						uc001ybg.2																			2	Unknown(2)		lung(2)		0						c.e4-1		inositol 1,3,4-triphosphate 5/6 kinase isoform							84.0	71.0	75.0					14																	93483148		2203	4300	6503	SO:0001630	splice_region_variant	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93483148T>A	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.121-2A>T	14.37:g.93483148T>A						ITPK1_uc001ybe.2_Splice_Site_p.L41_splice|ITPK1_uc001ybf.2_Splice_Site|ITPK1_uc001ybh.2_Splice_Site_p.L41_splice	p.L41_splice	NM_014216	NP_055031	Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	4	410	-		all_cancers(154;0.077)|all_epithelial(191;0.247)						Q9BTL6|Q9H2E7	Splice_Site	SNP	ENST00000267615.6	37	c.121_splice	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892099	0.52014	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000267615;ENST00000311458;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8354	0.70180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITPK1	92552901	1.000000	0.71417	0.983000	0.44433	0.367000	0.29736	5.554000	0.67294	1.975000	0.57531	0.459000	0.35465	.		PASS	0.577	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216	Intron	12	36	12	36	---	---	---	---
PRIMA1	145270	broad.mit.edu	37	14	94245617	94245617	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:94245617G>T	ENST00000393140.1	-	3	236	c.134C>A	c.(133-135)aCt>aAt	p.T45N	PRIMA1_ENST00000393143.1_Missense_Mutation_p.T45N|PRIMA1_ENST00000316227.3_Missense_Mutation_p.T45N	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	45					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)		p.T45N(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCAGCTGTCAGTCACTTTGGA	0.647																																						uc001ybw.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(133-135)ACT>AAT		proline rich membrane anchor 1 precursor							38.0	32.0	34.0					14																	94245617		2202	4300	6502	SO:0001583	missense	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94245617G>T		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.134C>A	14.37:g.94245617G>T	ENSP00000376848:p.Thr45Asn					PRIMA1_uc001ybx.1_RNA	p.T45N	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	3	176	-		all_cancers(154;0.127)	45			Extracellular (Potential).		Q86XR6	Missense_Mutation	SNP	ENST00000393140.1	37	c.134C>A	CCDS9912.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586381	0.46110	.	.	ENSG00000175785	ENST00000393140;ENST00000393143;ENST00000316227	.	.	.	4.86	4.86	0.63082	.	0.251436	0.32372	N	0.006198	T	0.33030	0.0849	N	0.19112	0.55	0.31713	N	0.639321	B	0.32968	0.392	B	0.30495	0.116	T	0.46952	-0.9154	9	0.49607	T	0.09	-4.0743	13.5121	0.61519	0.0:0.0:1.0:0.0	.	45	Q86XR5	PRIMA_HUMAN	N	45	.	ENSP00000320948:T45N	T	-	2	0	PRIMA1	93315370	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	4.749000	0.62155	2.254000	0.74563	0.549000	0.68633	ACT		PASS	0.647	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		11	8	11	8	---	---	---	---
SERPINA6	866	broad.mit.edu	37	14	94780383	94780383	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:94780383G>T	ENST00000341584.3	-	2	749	c.603C>A	c.(601-603)atC>atA	p.I201I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	201					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)	p.I201I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CTTTGAAGAAGATATAGTTGA	0.488																																						uc001ycv.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(601-603)ATC>ATA		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						107.0	106.0	106.0					14																	94780383		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780383G>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.603C>A	14.37:g.94780383G>T						SERPINA6_uc010auv.2_RNA	p.I201I	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	707	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	201					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.603C>A	CCDS9924.1																																																																																				PASS	0.488	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		27	37	27	37	---	---	---	---
SERPINA12	145264	broad.mit.edu	37	14	94962827	94962827	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:94962827G>T	ENST00000341228.2	-	4	1583	c.788C>A	c.(787-789)cCc>cAc	p.P263H	SERPINA12_ENST00000556881.1_Missense_Mutation_p.P263H	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	263					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P263H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTTCTGGTAGGGTATTTCCAG	0.468																																						uc001ydj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(787-789)CCC>CAC		serine (or cysteine) proteinase inhibitor, clade							197.0	188.0	191.0					14																	94962827		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94962827G>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.788C>A	14.37:g.94962827G>T	ENSP00000342109:p.Pro263His						p.P263H	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	4	1584	-			263						Missense_Mutation	SNP	ENST00000341228.2	37	c.788C>A	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729991	0.48939	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.89123	-2.47;-2.47	5.35	5.35	0.76521	Serpin domain (3);	0.000000	0.64402	D	0.000012	D	0.94788	0.8317	M	0.87900	2.915	0.46203	D	0.998924	D	0.76494	0.999	D	0.74674	0.984	D	0.94923	0.8075	10	0.52906	T	0.07	.	15.4294	0.75081	0.0:0.0:0.8606:0.1394	.	263	Q8IW75	SPA12_HUMAN	H	263	ENSP00000451738:P263H;ENSP00000342109:P263H	ENSP00000342109:P263H	P	-	2	0	SERPINA12	94032580	1.000000	0.71417	0.972000	0.41901	0.082000	0.17680	4.391000	0.59652	2.507000	0.84556	0.561000	0.74099	CCC		PASS	0.468	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		47	60	47	60	---	---	---	---
BDKRB1	623	broad.mit.edu	37	14	96730602	96730602	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:96730602C>A	ENST00000216629.6	+	3	1189	c.583C>A	c.(583-585)Cat>Aat	p.H195N	BDKRB1_ENST00000553356.1_Missense_Mutation_p.H195N|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	195					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.H195N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GCTCCTCCCCCATGAGGCCTG	0.562																																						uc001yfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(583-585)CAT>AAT		bradykinin receptor B1							81.0	74.0	76.0					14																	96730602		2203	4300	6503	SO:0001583	missense	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730602C>A	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.583C>A	14.37:g.96730602C>A	ENSP00000216629:p.His195Asn					BDKRB1_uc010avn.2_Missense_Mutation_p.H195N	p.H195N	NM_000710	NP_000701	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	791	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	195			Extracellular (Potential).		A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.583C>A	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	C	0.539	-0.854653	0.02630	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.35421	1.31;1.31	4.95	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.417922	0.23491	U	0.047612	T	0.21631	0.0521	N	0.26092	0.79	0.09310	N	0.999999	B;B	0.24092	0.097;0.045	B;B	0.20184	0.028;0.028	T	0.17592	-1.0364	10	0.09338	T	0.73	-5.3883	11.2591	0.49071	0.5361:0.4639:0.0:0.0	.	195;195	G3V4Y2;P46663	.;BKRB1_HUMAN	N	195	ENSP00000216629:H195N;ENSP00000452064:H195N	ENSP00000216629:H195N	H	+	1	0	BDKRB1	95800355	0.000000	0.05858	0.015000	0.15790	0.058000	0.15608	0.029000	0.13666	1.068000	0.40764	0.462000	0.41574	CAT		PASS	0.562	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			25	50	25	50	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102505346	102505346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:102505346C>T	ENST00000360184.4	+	60	11379	c.11215C>T	c.(11215-11217)Cag>Tag	p.Q3739*	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3739	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.Q3739*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGGGAATTTCAGCTCCGTTT	0.433																																						uc001yks.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(11215-11217)CAG>TAG		cytoplasmic dynein 1 heavy chain 1							97.0	100.0	99.0					14																	102505346		2203	4300	6503	SO:0001587	stop_gained	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102505346C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11215C>T	14.37:g.102505346C>T	ENSP00000348965:p.Gln3739*						p.Q3739*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			60	11379	+			3739			Potential.|AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.11215C>T	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.514663|4.514663	0.85389|0.85389	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79787	.|0.4506	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77752	.|-0.2470	.|3	0.02654|.	T|.	1|.	.|.	19.8182|19.8182	0.96579|0.96579	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	3739|165	.|.	ENSP00000348965:Q3739X|.	Q|S	+|+	1|2	0|0	DYNC1H1|DYNC1H1	101575099|101575099	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.962000|0.962000	0.63368|0.63368	7.818000|7.818000	0.86416|0.86416	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	CAG|TCA		PASS	0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		13	66	13	66	---	---	---	---
KLC1	3831	broad.mit.edu	37	14	104145867	104145867	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:104145867C>A	ENST00000348520.6	+	13	1954	c.1635C>A	c.(1633-1635)agC>agA	p.S545R	KLC1_ENST00000334553.6_Missense_Mutation_p.S545R|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000389744.4_Missense_Mutation_p.S545R|KLC1_ENST00000553286.1_Missense_Mutation_p.S545R|RP11-894P9.1_ENST00000498989.2_RNA|KLC1_ENST00000246489.7_Missense_Mutation_p.S545R|KLC1_ENST00000380038.3_Intron|KLC1_ENST00000452929.2_Missense_Mutation_p.S545R|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.S717R|KLC1_ENST00000557575.1_Missense_Mutation_p.S545R|KLC1_ENST00000445352.4_Intron|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000347839.6_Intron	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	545					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S545R(2)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TGAGTATGAGCGTAGAGTGGA	0.612																																						uc001yno.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1633-1635)AGC>AGA		kinesin light chain 1 isoform 2							166.0	127.0	140.0					14																	104145867		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104145867C>A	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1635C>A	14.37:g.104145867C>A	ENSP00000341154:p.Ser545Arg					KLC1_uc010tyd.1_Missense_Mutation_p.S704R|KLC1_uc010tye.1_Intron|KLC1_uc001ynm.1_Missense_Mutation_p.S545R|KLC1_uc001ynn.1_Intron|KLC1_uc010tyf.1_Missense_Mutation_p.S545R|KLC1_uc001ynp.1_RNA|KLC1_uc001ynr.1_Missense_Mutation_p.S55R|KLC1_uc010awu.1_Intron|KLC1_uc001ynq.1_Intron|KLC1_uc001yns.2_Intron	p.S545R	NM_182923	NP_891553	Q07866	KLC1_HUMAN			13	1943	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	545					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.1635C>A	CCDS41996.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	32|32|32	5.139042|5.139042|5.139042	0.94560|0.94560|0.94560	.|.|.	.|.|.	ENSG00000126214|ENSG00000126214|ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000553436|ENST00000537046;ENST00000535194|ENST00000348520;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000334553;ENST00000246489;ENST00000452929;ENST00000472726	.|.|T;T;T;T;T;T;T;T	.|.|0.79749	.|.|-1.3;-1.29;-1.28;-1.29;-1.09;-1.09;-1.1;-0.56	5.84|5.84|5.84	5.84|5.84|5.84	0.93424|0.93424|0.93424	.|.|.	.|.|0.126690	.|.|0.64402	.|.|D	.|.|0.000001	T|T|T	0.77274|0.77274|0.77274	0.4106|0.4106|0.4106	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;P;P;P	.|.|0.48640	.|.|0.866;0.913;0.864;0.609	.|.|B;P;P;B	.|.|0.49502	.|.|0.325;0.613;0.573;0.15	T|T|T	0.80734|0.80734|0.80734	-0.1250|-0.1250|-0.1250	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-9.177|-9.177|-9.177	20.1381|20.1381|20.1381	0.98040|0.98040|0.98040	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|545;717;545;545	.|.|F8VTM4;E7EVH7;Q07866-4;Q07866	.|.|.;.;.;KLC1_HUMAN	E|S|R	121|176;45|545;545;545;545;545;545;545;717	.|.|ENSP00000341154:S545R;ENSP00000374394:S545R;ENSP00000450617:S545R;ENSP00000452487:S545R;ENSP00000334523:S545R;ENSP00000246489:S545R;ENSP00000414982:S545R;ENSP00000439065:S717R	.|.|ENSP00000246489:S545R	A|R|S	+|+|+	2|1|3	0|0|2	KLC1|KLC1|KLC1;RP11-73M18.2	103215620|103215620|103215620	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.755000|7.755000|7.755000	0.85180|0.85180|0.85180	2.763000|2.763000|2.763000	0.94921|0.94921|0.94921	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCG|CGT|AGC		PASS	0.612	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		9	34	9	34	---	---	---	---
NUDT14	256281	broad.mit.edu	37	14	105642975	105642975	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:105642975C>A	ENST00000392568.2	-	4	417	c.324G>T	c.(322-324)gtG>gtT	p.V108V	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'Flank	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	108	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.V108V(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGGCTGGTCCACGAGGCCGG	0.672										HNSCC(42;0.11)																												uc010tyn.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(322-324)GTG>GTT		nudix-type motif 14							56.0	48.0	51.0					14																	105642975		2199	4293	6492	SO:0001819	synonymous_variant	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105642975C>A	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.324G>T	14.37:g.105642975C>A		HNSCC(42;0.11)				NUDT14_uc001yqi.2_RNA	p.V108V	NM_177533	NP_803877	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	438	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	108			Nudix hydrolase.		Q86SJ8	Silent	SNP	ENST00000392568.2	37	c.324G>T	CCDS10000.1																																																																																				PASS	0.672	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		18	37	18	37	---	---	---	---
IGHA1	3493	broad.mit.edu	37	14	106173640	106173640	+	RNA	SNP	G	G	T	rs71423285		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:106173640G>T	ENST00000390547.2	-	0	926				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										AGGAGAAGGTGTCCCCCTTCT	0.637																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							59.0	97.0	84.0					14																	106173640		2103	4259	6362			8755							g.chr14:106173640G>T	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173640G>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001ysc.2_5'Flank								3633		-									RNA	SNP	ENST00000390547.2	37	c.60258C>A																																																																																					PASS	0.637	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		12	58	12	58	---	---	---	---
IGHV3-11	28450	broad.mit.edu	37	14	106573402	106573402	+	RNA	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:106573402C>A	ENST00000390601.2	-	0	301									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		CAGCCCCTTCCCTGGAGCCTG	0.552																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							174.0	141.0	152.0					14																	106573402		1868	4096	5964			8755							g.chr14:106573402C>A	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573402C>A														1362		-									RNA	SNP	ENST00000390601.2	37	c.29123G>T																																																																																					PASS	0.552	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		64	96	64	96	---	---	---	---
IGHV3-15	28448	broad.mit.edu	37	14	106610475	106610475	+	RNA	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:106610475C>T	ENST00000390603.2	-	0	274									immunoglobulin heavy variable 3-15									p.E65E(1)									GGCCAACCCACTCCAGCCCCT	0.537																																						uc010tyt.1																			1	Substitution - coding silent(1)		lung(1)		0								Parts of antibodies, mostly variable regions.							85.0	81.0	82.0					14																	106610475		1888	4103	5991			8755							g.chr14:106610475C>T	X92216		14q32.33	2012-02-10			ENSG00000211943	ENSG00000211943		"""Immunoglobulins / IGH locus"""	5582	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152282		14.37:g.106610475C>T														1167		-									RNA	SNP	ENST00000390603.2	37	c.26356G>A																																																																																					PASS	0.537	IGHV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325670.1	NG_001019		37	38	37	38	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28491925	28491925	+	Silent	SNP	G	G	A	rs112980995	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:28491925G>A	ENST00000261609.7	-	22	3462	c.3354C>T	c.(3352-3354)ttC>ttT	p.F1118F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.F1118F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCACCTCCGCGAAGTGCCGCC	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16673	0.0		0.0	False		,,,				2504	0.0					uc001zbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(3352-3354)TTC>TTT		hect domain and RLD 2		G		0,4406		0,0,2203	63.0	61.0	62.0		3354	-1.8	1.0	15	dbSNP_132	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HERC2	NM_004667.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1118/4835	28491925	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28491925G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3354C>T	15.37:g.28491925G>A							p.F1118F	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	22	3460	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1118						Silent	SNP	ENST00000261609.7	37	c.3354C>T	CCDS10021.1																																																																																				PASS	0.488	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		15	7	15	7	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33925290	33925290	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:33925290G>T	ENST00000389232.4	+	24	3078	c.3008G>T	c.(3007-3009)tGg>tTg	p.W1003L	RYR3_ENST00000415757.3_Missense_Mutation_p.W1003L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1003	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.W1003L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAACAAGGATGGACCTATGGC	0.413																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3007-3009)TGG>TTG		ryanodine receptor 3							86.0	79.0	81.0					15																	33925290		1897	4113	6010	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33925290G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3008G>T	15.37:g.33925290G>T	ENSP00000373884:p.Trp1003Leu					RYR3_uc010bar.2_Missense_Mutation_p.W1003L	p.W1003L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	24	3078	+		all_lung(180;7.18e-09)	1003			2.|4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3008G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746147	0.89663	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.93547	-3.24;-3.24	5.41	5.41	0.78517	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.97645	0.9228	H	0.94423	3.535	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.83275	0.979;0.996	D	0.96680	0.9503	10	0.27785	T	0.31	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	1003;1003	Q15413-2;Q15413	.;RYR3_HUMAN	L	1003	ENSP00000373884:W1003L;ENSP00000399610:W1003L	ENSP00000354735:W1003L	W	+	2	0	RYR3	31712582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.483000	0.97937	2.814000	0.96858	0.591000	0.81541	TGG		PASS	0.413	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			14	8	14	8	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33999221	33999221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:33999221C>A	ENST00000389232.4	+	43	6655	c.6585C>A	c.(6583-6585)taC>taA	p.Y2195*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.Y2195*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2195	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.Y2195*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGAACGCTACCTGTCCTTCC	0.517																																						uc001zhi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6583-6585)TAC>TAA		ryanodine receptor 3							113.0	123.0	120.0					15																	33999221		2151	4268	6419	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33999221C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6585C>A	15.37:g.33999221C>A	ENSP00000373884:p.Tyr2195*					RYR3_uc010bar.2_Nonsense_Mutation_p.Y2195*	p.Y2195*	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	43	6655	+		all_lung(180;7.18e-09)	2195			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.6585C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	48	14.398829	0.99793	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9774	0.47473	0.0:0.8485:0.0:0.1515	.	.	.	.	X	2195	.	ENSP00000354735:Y2195X	Y	+	3	2	RYR3	31786513	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.661000	0.25023	1.496000	0.48567	0.591000	0.81541	TAC		PASS	0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			10	4	10	4	---	---	---	---
GPR176	11245	broad.mit.edu	37	15	40099429	40099430	+	Missense_Mutation	DNP	CG	CG	AA	rs371197047|rs377756503		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:40099429_40099430CG>AA	ENST00000561100.1	-	2	1067_1068	c.202_203CG>TT	c.(202-204)CGc>TTc	p.R68F	GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000543580.1_Missense_Mutation_p.R23F|GPR176_ENST00000299092.3_Intron	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	68				GNFMVLWSTCRTTVFKSVTN -> EFGNMEVTRKLDKSRLP GI (in Ref. 2). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R68C(1)|p.R68L(1)|p.R68F(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CACGGTTGTGCGGCAAGTTGAC	0.391																																						uc001zkj.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(202-204)CGC>CTC|c.(202-204)CGC>TGC		G protein-coupled receptor 176																																				SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40099429C>A|g.chr15:40099430G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.202_203delinsAA	15.37:g.40099429_40099430delinsAA	ENSP00000453076:p.Arg68Phe					GPR176_uc010uck.1_Missense_Mutation_p.R8L|GPR176_uc010uck.1_Missense_Mutation_p.R8C	p.R68L|p.R68C	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	2	1069|1068	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	68	GNFMVLWSTCRTTVFKSVTN -> EFGNMEVTRKLDKSRLP GI (in Ref. 2).		Cytoplasmic (Potential).		Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.203G>T|c.202C>T	CCDS10051.1																																																																																				PASS	0.391	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		24	7	24	7	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48714206	48714206	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:48714206C>A	ENST00000316623.5	-	61	7968	c.7513G>T	c.(7513-7515)Ggc>Tgc	p.G2505C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2505	EGF-like 43; 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.G2505C(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)		GTGAAGCCGCCAATGGTGTTA	0.453																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(7513-7515)GGC>TGC		fibrillin 1 precursor							113.0	95.0	101.0					15																	48714206		2198	4296	6494	SO:0001583	missense	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.chr15:48714206C>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.7513G>T	15.37:g.48714206C>A	ENSP00000325527:p.Gly2505Cys					FBN1_uc010beo.1_RNA	p.G2505C	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	61	7841	-		all_lung(180;0.00279)	2505			EGF-like 43; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7513G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207341	0.95033	.	.	ENSG00000166147	ENST00000316623	D	0.99557	-6.16	5.89	5.89	0.94794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96847	0.9622	10	0.87932	D	0	.	19.8568	0.96762	0.0:1.0:0.0:0.0	.	2505	P35555	FBN1_HUMAN	C	2505	ENSP00000325527:G2505C	ENSP00000325527:G2505C	G	-	1	0	FBN1	46501498	1.000000	0.71417	0.955000	0.39395	0.968000	0.65278	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GGC		PASS	0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			18	6	18	6	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53998163	53998163	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:53998163G>T	ENST00000396328.1	-	10	1302	c.1063C>A	c.(1063-1065)Cct>Act	p.P355T	WDR72_ENST00000360509.5_Missense_Mutation_p.P355T|WDR72_ENST00000559418.1_Missense_Mutation_p.P365T|WDR72_ENST00000557913.1_Missense_Mutation_p.P352T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	355								p.P355T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGAACATCAGGGATGTGCCAC	0.383																																						uc002acj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1063-1065)CCT>ACT		WD repeat domain 72							113.0	111.0	112.0					15																	53998163		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53998163G>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1063C>A	15.37:g.53998163G>T	ENSP00000379619:p.Pro355Thr					WDR72_uc010bfi.1_Missense_Mutation_p.P355T	p.P355T	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	10	1105	-			355			WD 4.		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1063C>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585516	0.66105	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.78595	-1.19;-1.19	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88269	0.6391	M	0.76002	2.32	0.44117	D	0.996895	D	0.89917	1.0	D	0.91635	0.999	D	0.87717	0.2570	10	0.51188	T	0.08	.	18.9709	0.92715	0.0:0.0:1.0:0.0	.	355	Q3MJ13	WDR72_HUMAN	T	355	ENSP00000379619:P355T;ENSP00000353699:P355T	ENSP00000353699:P355T	P	-	1	0	WDR72	51785455	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.572000	0.67411	2.728000	0.93425	0.655000	0.94253	CCT		PASS	0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		10	54	10	54	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56387339	56387339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:56387339C>A	ENST00000559447.2	-	9	2567	c.2296G>T	c.(2296-2298)Gag>Tag	p.E766*	RFX7_ENST00000422057.1_Nonsense_Mutation_p.E766*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.E863*|RFX7_ENST00000423270.1_Nonsense_Mutation_p.E863*			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	766					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E863*(1)|p.E766*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGCTCAAACTCCTTCAGTTCA	0.398																																						uc010bfn.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(2587-2589)GAG>TAG		regulatory factor X domain containing 2							91.0	88.0	89.0					15																	56387339		1884	4108	5992	SO:0001587	stop_gained	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387339C>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2296G>T	15.37:g.56387339C>A	ENSP00000453281:p.Glu766*					RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Nonsense_Mutation_p.E677*	p.E863*	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	2587	-			766					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Nonsense_Mutation	SNP	ENST00000559447.2	37	c.2587G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.512170	0.97624	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	.	.	.	5.64	5.64	0.86602	.	0.103535	0.42548	D	0.000686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.6299	16.8571	0.86009	0.0:1.0:0.0:0.0	.	.	.	.	X	766;863;863	.	ENSP00000313299:E863X	E	-	1	0	RFX7	54174631	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.993000	0.63895	2.637000	0.89404	0.563000	0.77884	GAG		PASS	0.398	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		11	38	11	38	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65490241	65490241	+	Missense_Mutation	SNP	G	G	T	rs146342304		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:65490241G>T	ENST00000261883.4	-	9	2549	c.2383C>A	c.(2383-2385)Cgc>Agc	p.R795S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	795					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.R795S(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						CTGTCAAAGCGGCCCCAGGCC	0.572																																						uc002aon.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(2383-2385)CGC>AGC		cartilage intermediate layer protein							59.0	63.0	61.0					15																	65490241		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490241G>T	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.2383C>A	15.37:g.65490241G>T	ENSP00000261883:p.Arg795Ser						p.R795S	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	2564	-			795					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2383C>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479577	0.63849	.	.	ENSG00000138615	ENST00000261883	T	0.11604	2.76	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.21999	-1.0229	10	0.87932	D	0	-21.6651	18.1161	0.89555	0.0:0.0:1.0:0.0	.	795	O75339	CILP1_HUMAN	S	795	ENSP00000261883:R795S	ENSP00000261883:R795S	R	-	1	0	CILP	63277294	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.637000	0.83313	2.584000	0.87258	0.563000	0.77884	CGC		PASS	0.572	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		45	13	45	13	---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65766574	65766575	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:65766574_65766575CC>AA	ENST00000341861.5	-	12	3136_3137	c.1556_1557GG>TT	c.(1555-1557)tGG>tTT	p.W519F	DPP8_ENST00000559233.1_Missense_Mutation_p.W519F|DPP8_ENST00000321147.6_Missense_Mutation_p.W519F|DPP8_ENST00000358939.4_Missense_Mutation_p.W503F|DPP8_ENST00000321118.7_Missense_Mutation_p.W519F|DPP8_ENST00000339244.5_Intron|DPP8_ENST00000300141.6_Missense_Mutation_p.W503F	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	519					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.W503L(1)|p.W503F(1)|p.W503C(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGAACTTCCCATTCACCACT	0.342																																						uc002aov.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1555-1557)TGG>TGT|c.(1555-1557)TGG>TTG		dipeptidyl peptidase 8 isoform 1																																				SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65766574C>A|g.chr15:65766575C>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1556_1557delinsAA	15.37:g.65766574_65766575delinsAA	ENSP00000339208:p.Trp519Phe					DPP8_uc002aow.2_Missense_Mutation_p.W519C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.W503C|DPP8_uc002aoy.2_Missense_Mutation_p.W519C|DPP8_uc002aoz.2_Missense_Mutation_p.W503C|DPP8_uc010bhj.2_Missense_Mutation_p.W519C|DPP8_uc002apa.2_Missense_Mutation_p.W416C|DPP8_uc010bhk.1_Intron|DPP8_uc002aow.2_Missense_Mutation_p.W519L|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.W503L|DPP8_uc002aoy.2_Missense_Mutation_p.W519L|DPP8_uc002aoz.2_Missense_Mutation_p.W503L|DPP8_uc010bhj.2_Missense_Mutation_p.W519L|DPP8_uc002apa.2_Missense_Mutation_p.W416L|DPP8_uc010bhk.1_Intron	p.W519C|p.W519L	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			12	3135|3134	-			519					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.1557G>T|c.1556G>T	CCDS10207.1																																																																																				PASS	0.342	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		25	12|11	25	11	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72146721	72146721	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:72146721T>A	ENST00000356056.5	-	35	6815	c.6343A>T	c.(6343-6345)Aca>Tca	p.T2115S	MYO9A_ENST00000424560.1_Missense_Mutation_p.T2186S|MYO9A_ENST00000444904.1_Missense_Mutation_p.T2096S|MYO9A_ENST00000564571.1_Missense_Mutation_p.T2115S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2115	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.T2115S(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATCTTACCTGTATCTAGACCC	0.338																																						uc002atl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(6343-6345)ACA>TCA		myosin IXA							119.0	120.0	119.0					15																	72146721		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72146721T>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6343A>T	15.37:g.72146721T>A	ENSP00000348349:p.Thr2115Ser					MYO9A_uc002atj.2_Missense_Mutation_p.T28S|MYO9A_uc002atk.2_Missense_Mutation_p.T910S	p.T2115S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			35	6816	-			2115			Phorbol-ester/DAG-type 2.|Tail.|Rho-GAP.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.6343A>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221063	0.58560	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.17054	2.3;2.3;2.3	5.99	4.87	0.63330	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.12050	0.0293	N	0.05280	-0.08	0.45439	D	0.998411	P;P	0.44659	0.84;0.592	P;B	0.48334	0.574;0.183	T	0.26849	-1.0091	9	0.20519	T	0.43	.	12.2073	0.54358	0.0:0.0666:0.0:0.9334	.	2115;1879	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	S	2115;2186;2096	ENSP00000348349:T2115S;ENSP00000399162:T2186S;ENSP00000398250:T2096S	ENSP00000348349:T2115S	T	-	1	0	MYO9A	69933775	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.276000	0.72601	1.083000	0.41159	-0.376000	0.06991	ACA		PASS	0.338	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		74	28	74	28	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72252431	72252431	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:72252431G>A	ENST00000356056.5	-	14	2465	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R665W|MYO9A_ENST00000566885.1_Missense_Mutation_p.R260W|MYO9A_ENST00000444904.1_Missense_Mutation_p.R646W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R665W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	665	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R665W(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTTTTCCCGGAAATCCTAT	0.383																																						uc002atl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1993-1995)CGG>TGG		myosin IXA							65.0	64.0	64.0					15																	72252431		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72252431G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1993C>T	15.37:g.72252431G>A	ENSP00000348349:p.Arg665Trp					MYO9A_uc010biq.2_Missense_Mutation_p.R260W|MYO9A_uc002ato.2_Missense_Mutation_p.R665W|MYO9A_uc002atn.1_Missense_Mutation_p.R646W	p.R665W	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			14	2466	-			665			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1993C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710351	0.68730	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	T;T;T	0.71817	-0.6;-0.6;-0.6	5.62	4.7	0.59300	Myosin head, motor domain (2);	.	.	.	.	D	0.85513	0.5714	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.88120	0.2831	9	0.72032	D	0.01	.	15.867	0.79071	0.0:0.0:0.8631:0.1369	.	646;665;646;665	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	W	665;665;646;646;665	ENSP00000348349:R665W;ENSP00000399162:R665W;ENSP00000398250:R646W	ENSP00000261864:R646W	R	-	1	2	MYO9A	70039485	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	3.901000	0.56303	1.356000	0.45884	-0.321000	0.08615	CGG		PASS	0.383	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		15	24	15	24	---	---	---	---
STRA6	64220	broad.mit.edu	37	15	74476241	74476241	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:74476241C>A	ENST00000323940.5	-	14	1501	c.1256G>T	c.(1255-1257)tGt>tTt	p.C419F	STRA6_ENST00000574278.1_Missense_Mutation_p.C434F|STRA6_ENST00000535552.1_Missense_Mutation_p.C456F|STRA6_ENST00000563965.1_Missense_Mutation_p.C458F|STRA6_ENST00000449139.2_Missense_Mutation_p.C419F|STRA6_ENST00000423167.2_Missense_Mutation_p.C410F|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000395105.4_Missense_Mutation_p.C419F|STRA6_ENST00000416286.3_Missense_Mutation_p.C411F	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	419					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)	p.C419F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GCTCATCCAACAGAATATGGC	0.617																																						uc002axk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1255-1257)TGT>TTT		stimulated by retinoic acid gene 6 homolog							112.0	99.0	103.0					15																	74476241		2198	4297	6495	SO:0001583	missense	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74476241C>A	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1256G>T	15.37:g.74476241C>A	ENSP00000326085:p.Cys419Phe					STRA6_uc002axi.2_Missense_Mutation_p.C228F|STRA6_uc010ulh.1_Missense_Mutation_p.C457F|STRA6_uc002axj.2_Missense_Mutation_p.C458F|STRA6_uc010bji.2_Missense_Mutation_p.C419F|STRA6_uc002axl.2_Missense_Mutation_p.C351F|STRA6_uc002axm.2_Missense_Mutation_p.C419F|STRA6_uc002axn.2_Missense_Mutation_p.C410F|STRA6_uc010uli.1_Missense_Mutation_p.C456F|STRA6_uc010bjj.1_RNA	p.C419F	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN			14	1438	-			419			Extracellular (Potential).		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	c.1256G>T	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798642	0.31777	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	4.55	2.65	0.31530	.	0.240554	0.50627	D	0.000103	D	0.87939	0.6304	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D	0.67145	0.989;0.989;0.989;0.995;0.989;0.996	P;P;P;P;P;D	0.63192	0.859;0.859;0.859;0.894;0.859;0.912	D	0.87339	0.2330	10	0.87932	D	0	-9.764	10.8741	0.46900	0.1419:0.7074:0.1507:0.0	.	456;457;410;419;458;228	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	F	419;419;351;228;458;410;456;309	ENSP00000378537:C419F;ENSP00000326085:C419F;ENSP00000413012:C410F;ENSP00000440238:C456F	ENSP00000326085:C419F	C	-	2	0	STRA6	72263294	1.000000	0.71417	0.427000	0.26684	0.143000	0.21401	3.222000	0.51223	0.461000	0.27071	-0.224000	0.12420	TGT		PASS	0.617	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			38	16	38	16	---	---	---	---
CPLX3	594855	broad.mit.edu	37	15	75122513	75122513	+	Missense_Mutation	SNP	G	G	T	rs199684945	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:75122513G>T	ENST00000395018.4	+	3	452	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	99					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)	p.V99L(1)		large_intestine(2)|lung(2)	4						AGGTGGAGACGTGGAGCTGCC	0.617																																						uc002ayu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GTG>TTG		complexin 3 precursor							63.0	62.0	62.0					15																	75122513		2197	4295	6492	SO:0001583	missense	594855					cell junction|synapse	syntaxin binding	g.chr15:75122513G>T	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.295G>T	15.37:g.75122513G>T	ENSP00000378464:p.Val99Leu						p.V99L	NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN			3	389	+			99					D3DW66|Q8TEM6|Q9H818	Missense_Mutation	SNP	ENST00000395018.4	37	c.295G>T	CCDS32294.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859928	0.91433	.	.	ENSG00000213578	ENST00000395018	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000006	T	0.67192	0.2867	L	0.33485	1.01	0.58432	D	0.999995	D	0.69078	0.997	D	0.79784	0.993	T	0.65721	-0.6099	9	0.39692	T	0.17	-17.0864	17.7106	0.88321	0.0:0.0:1.0:0.0	.	99	Q8WVH0	CPLX3_HUMAN	L	99	.	ENSP00000378464:V99L	V	+	1	0	CPLX3	72909566	1.000000	0.71417	0.964000	0.40570	0.974000	0.67602	6.395000	0.73228	2.529000	0.85273	0.655000	0.94253	GTG		PASS	0.617	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		18	8	18	8	---	---	---	---
SH3GL3	6457	broad.mit.edu	37	15	84245363	84245363	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:84245363G>T	ENST00000427482.2	+	6	800	c.494G>T	c.(493-495)cGc>cTc	p.R165L	SH3GL3_ENST00000535412.1_Missense_Mutation_p.R165L|SH3GL3_ENST00000324537.5_Missense_Mutation_p.R173L|SH3GL3_ENST00000434347.1_Missense_Mutation_p.R173L	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	165	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R173L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GAAGGCCGCCGCCTGGATTAC	0.403																																						uc002bjw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(493-495)CGC>CTC		SH3-domain GRB2-like 3							43.0	47.0	46.0					15																	84245363		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84245363G>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.494G>T	15.37:g.84245363G>T	ENSP00000391372:p.Arg165Leu					SH3GL3_uc010uot.1_Missense_Mutation_p.R165L|SH3GL3_uc002bjx.2_Missense_Mutation_p.R96L|SH3GL3_uc002bju.2_Missense_Mutation_p.R173L|SH3GL3_uc002bjv.2_RNA	p.R165L	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			6	689	+			165			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.494G>T	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	G	32	5.173868	0.94807	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.05	5.05	0.67936	BAR (3);	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.98;0.996;0.992	T	0.79957	-0.1584	10	0.87932	D	0	-5.6804	17.7917	0.88554	0.0:0.0:1.0:0.0	.	165;165;173	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	L	165;165;173;173	ENSP00000391372:R165L;ENSP00000439239:R165L;ENSP00000320092:R173L;ENSP00000397871:R173L	ENSP00000320092:R173L	R	+	2	0	SH3GL3	82036367	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.398000	0.97281	2.503000	0.84419	0.591000	0.81541	CGC		PASS	0.403	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		8	6	8	6	---	---	---	---
HAPLN3	145864	broad.mit.edu	37	15	89421336	89421336	+	Silent	SNP	C	C	T	rs191460461		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:89421336C>T	ENST00000359595.3	-	5	1162	c.948G>A	c.(946-948)ctG>ctA	p.L316L	HAPLN3_ENST00000562889.1_Silent_p.L378L	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	316	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.L316L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	TACCATCTGCCAGCCAGCCAG	0.657													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15023	0.0		0.0	False		,,,				2504	0.0					uc002bnc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(946-948)CTG>CTA		hyaluronan and proteoglycan link protein 3							101.0	99.0	100.0					15																	89421336		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421336C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.948G>A	15.37:g.89421336C>T						HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.L378L	p.L316L	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			5	1076	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		316			Link 2.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.948G>A	CCDS10346.1																																																																																				PASS	0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		25	49	25	49	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	424044	424044	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:424044G>A	ENST00000431232.2	-	11	2023	c.1863C>T	c.(1861-1863)acC>acT	p.T621T	TMEM8A_ENST00000250930.3_Silent_p.T428T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	621					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)		p.T621T(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGCACAGGATGGTGACCCAGA	0.667											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002cgu.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|pancreas(1)	3						c.(1861-1863)ACC>ACT		transmembrane protein 8 (five membrane-spanning							57.0	53.0	54.0					16																	424044		2198	4298	6496	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:424044G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1863C>T	16.37:g.424044G>A			OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	TMEM8A_uc002cgv.3_Silent_p.T428T	p.T621T	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN			11	1992	-			621			Helical; (Potential).		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.1863C>T	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	7.981	0.751280	0.15778	.	.	ENSG00000129925	ENST00000424078	.	.	.	3.94	2.98	0.34508	.	.	.	.	.	T	0.58466	0.2124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53690	-0.8403	4	.	.	.	-7.685	8.9578	0.35829	0.0851:0.1484:0.7664:0.0	.	.	.	.	L	128	.	.	P	-	2	0	TMEM8A	364045	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	1.068000	0.30629	0.883000	0.36040	0.563000	0.77884	CCA		PASS	0.667	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		12	5	12	5	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9923493	9923493	+	Silent	SNP	A	A	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:9923493A>C	ENST00000396573.2	-	10	2103	c.1794T>G	c.(1792-1794)tcT>tcG	p.S598S	GRIN2A_ENST00000396575.2_Silent_p.S598S|GRIN2A_ENST00000404927.2_Silent_p.S598S|GRIN2A_ENST00000562109.1_Silent_p.S598S|GRIN2A_ENST00000535259.1_Silent_p.S441S|GRIN2A_ENST00000330684.3_Silent_p.S598S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	598			S -> F (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		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.S598S(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)	CAATTGTAAAAGAAGGCCCAT	0.463																																						uc002czo.3																			1	Substitution - coding silent(1)	p.S598F(1)	lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1792-1794)TCT>TCG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						49.0	48.0	48.0					16																	9923493		2197	4300	6497	SO:0001819	synonymous_variant	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.chr16:9923493A>C		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.1794T>G	16.37:g.9923493A>C						GRIN2A_uc010uym.1_Silent_p.S598S|GRIN2A_uc010uyn.1_Silent_p.S441S|GRIN2A_uc002czr.3_Silent_p.S598S	p.S598S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			9	2342	-			598			Cytoplasmic (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.1794T>G	CCDS10539.1																																																																																				PASS	0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			19	25	19	25	---	---	---	---
RRN3	54700	broad.mit.edu	37	16	15155611	15155611	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:15155611C>A	ENST00000198767.6	-	18	2029	c.1946G>T	c.(1945-1947)aGt>aTt	p.S649I	RRN3_ENST00000540462.1_Missense_Mutation_p.S467I|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.S616I|RRN3_ENST00000429751.2_Missense_Mutation_p.S619I|RRN3_ENST00000563559.1_Intron	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	649	Interaction with EIF3L.|Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S649I(1)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TCAGAGGGGACTGGGTTGCAT	0.512																																						uc002dde.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1945-1947)AGT>ATT		RRN3 RNA polymerase I transcription factor							120.0	105.0	110.0					16																	15155611		2197	4300	6497	SO:0001583	missense	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15155611C>A	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1946G>T	16.37:g.15155611C>A	ENSP00000198767:p.Ser649Ile					PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.S517I|RRN3_uc010uzq.1_Missense_Mutation_p.S619I	p.S649I	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN			18	2014	-			649			Interaction with EIF3L.|Interaction with TWISTNB.		A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	c.1946G>T	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380904	0.42207	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.43294	0.95;0.96;0.96;0.96	6.08	0.697	0.18081	.	3.735170	0.00982	U	0.003399	T	0.37461	0.1004	L	0.36672	1.1	0.29707	N	0.839666	B;B;B	0.24483	0.104;0.063;0.063	B;B;B	0.30646	0.118;0.034;0.055	T	0.31280	-0.9949	10	0.46703	T	0.11	.	5.9426	0.19201	0.0:0.5743:0.13:0.2957	.	619;550;649	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	I	649;619;616;467	ENSP00000198767:S649I;ENSP00000402027:S619I;ENSP00000318484:S616I;ENSP00000437963:S467I	ENSP00000198767:S649I	S	-	2	0	RRN3	15063112	0.992000	0.36948	0.984000	0.44739	0.410000	0.31052	0.937000	0.28951	0.131000	0.18576	0.655000	0.94253	AGT		PASS	0.512	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		19	33	19	33	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15876249	15876249	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:15876249G>T	ENST00000300036.5	-	6	828	c.719C>A	c.(718-720)tCa>tAa	p.S240*	MYH11_ENST00000396324.3_Nonsense_Mutation_p.S247*|MYH11_ENST00000576790.2_Nonsense_Mutation_p.S240*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.S247*	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	240	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.S240*(1)|p.S247*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TACGAATCGTGAGGAGTTGTC	0.502			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - Nonsense(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(718-720)TCA>TAA		smooth muscle myosin heavy chain 11 isoform							164.0	149.0	154.0					16																	15876249		2197	4300	6497	SO:0001587	stop_gained	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15876249G>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.719C>A	16.37:g.15876249G>T	ENSP00000300036:p.Ser240*					MYH11_uc002ddv.2_Nonsense_Mutation_p.S247*|MYH11_uc002ddw.2_Nonsense_Mutation_p.S240*|MYH11_uc002ddx.2_Nonsense_Mutation_p.S247*|MYH11_uc010bvg.2_Nonsense_Mutation_p.S72*|MYH11_uc002dea.1_5'UTR	p.S240*	NM_002474	NP_002465	P35749	MYH11_HUMAN			6	826	-			240			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Nonsense_Mutation	SNP	ENST00000300036.5	37	c.719C>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	40	8.057114	0.98632	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9519	0.89056	0.0:0.0:1.0:0.0	.	.	.	.	X	240;240;247;247;247	.	ENSP00000300036:S240X	S	-	2	0	MYH11	15783750	1.000000	0.71417	0.959000	0.39883	0.992000	0.81027	9.463000	0.97652	2.637000	0.89404	0.561000	0.74099	TCA		PASS	0.502	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		29	43	29	43	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18887445	18887445	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:18887445C>A	ENST00000446231.2	-	13	2303		c.e13+1		SMG1_ENST00000389467.3_Splice_Site|SMG1_ENST00000565224.1_Missense_Mutation_p.V605L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase						DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAAAGACTCACCCCTATTAGT	0.333																																						uc002dfm.2																			2	Unknown(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.e13+1		PI-3-kinase-related kinase SMG-1							70.0	72.0	72.0					16																	18887445		1829	4076	5905	SO:0001630	splice_region_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18887445C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1890+1G>T	16.37:g.18887445C>A						SMG1_uc010bwb.2_Splice_Site_p.G490_splice	p.G630_splice	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			13	2253	-								O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Splice_Site	SNP	ENST00000446231.2	37	c.1890_splice	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147711	0.37923	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0302	0.92953	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMG1	18794946	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	7.779000	0.85648	2.484000	0.83849	0.491000	0.48974	.		PASS	0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	Intron	36	55	36	55	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20371903	20371903	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:20371903T>C	ENST00000302451.4	-	11	1741	c.1493A>G	c.(1492-1494)gAg>gGg	p.E498G		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	498					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.E498G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATCCTCATCCTCAATCTTAGT	0.453																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1492-1494)GAG>GGG		protein disulfide isomerase-like, testis							243.0	219.0	227.0					16																	20371903		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20371903T>C		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1493A>G	16.37:g.20371903T>C	ENSP00000305465:p.Glu498Gly						p.E498G	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			11	1716	-			498					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1493A>G	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.630420	0.46944	.	.	ENSG00000169340	ENST00000302451	T	0.15603	2.41	4.58	3.45	0.39498	Thioredoxin-like fold (1);	0.464041	0.23865	N	0.043803	T	0.23806	0.0576	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.66084	0.941	T	0.03503	-1.1030	10	0.35671	T	0.21	.	7.5045	0.27536	0.1907:0.0:0.0:0.8093	.	498	Q8N807	PDILT_HUMAN	G	498	ENSP00000305465:E498G	ENSP00000305465:E498G	E	-	2	0	PDILT	20279404	0.053000	0.20554	0.013000	0.15412	0.415000	0.31203	2.050000	0.41297	1.033000	0.39918	0.528000	0.53228	GAG		PASS	0.453	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		107	139	107	139	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20638573	20638573	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:20638573C>T	ENST00000307493.4	-	10	1432	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K	ACSM1_ENST00000219151.4_Silent_p.K106K|ACSM1_ENST00000520010.1_Silent_p.K455K	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	455					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.K106K(1)|p.K455K(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCATCCATCTTACCTCTGT	0.507																																						uc002dhm.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1363-1365)AAG>AAA		acyl-CoA synthetase medium-chain family member							366.0	356.0	359.0					16																	20638573		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20638573C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1365G>A	16.37:g.20638573C>T						ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.K455K	p.K455K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			10	1433	-			455					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.1365G>A	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.544258	0.00142	.	.	ENSG00000166743	ENST00000524149	.	.	.	4.22	-8.45	0.00946	.	.	.	.	.	T	0.17874	0.0429	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17623	-1.0363	4	.	.	.	.	4.8726	0.13640	0.2361:0.2713:0.4052:0.0874	.	.	.	.	K	127	.	.	R	-	2	0	ACSM1	20546074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.997000	0.01470	-2.335000	0.00629	-1.720000	0.00707	AGA		PASS	0.507	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		163	259	163	259	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21145703	21145703	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:21145703T>C	ENST00000261383.3	-	7	958	c.959A>G	c.(958-960)cAa>cGa	p.Q320R	DNAH3_ENST00000415178.1_Missense_Mutation_p.Q320R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	320	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.Q320R(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACTCTTTGAGGAAACAA	0.542																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(958-960)CAA>CGA		dynein, axonemal, heavy chain 3							96.0	96.0	96.0					16																	21145703		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145703T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.959A>G	16.37:g.21145703T>C	ENSP00000261383:p.Gln320Arg					DNAH3_uc002die.2_Missense_Mutation_p.Q291R	p.Q320R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	7	959	-			320			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.959A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524513	0.27299	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.21932	1.98;2.12	5.85	5.85	0.93711	.	0.249082	0.33382	N	0.004973	T	0.18964	0.0455	L	0.55481	1.735	0.21984	N	0.999438	B;B	0.13145	0.0;0.007	B;B	0.08055	0.001;0.003	T	0.24584	-1.0156	10	0.13108	T	0.6	.	10.4597	0.44572	0.1453:0.0:0.0:0.8546	.	320;291	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	R	320;320;291	ENSP00000261383:Q320R;ENSP00000394245:Q320R	ENSP00000261383:Q320R	Q	-	2	0	DNAH3	21053204	0.921000	0.31238	0.995000	0.50966	0.980000	0.70556	0.541000	0.23207	2.238000	0.73509	0.533000	0.62120	CAA		PASS	0.542	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		33	66	33	66	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24950823	24950823	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:24950823G>A	ENST00000289968.6	-	17	1655	c.1586C>T	c.(1585-1587)cCc>cTc	p.P529L	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	529	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.P529L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCCATCTGTGGGCGGAAGTGG	0.632																																						uc002dnb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1585-1587)CCC>CTC		nadrin isoform 1							19.0	25.0	23.0					16																	24950823		2196	4298	6494	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24950823G>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1586C>T	16.37:g.24950823G>A	ENSP00000289968:p.Pro529Leu					ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Missense_Mutation_p.P53L|ARHGAP17_uc002dna.2_Missense_Mutation_p.P256L|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	p.P529L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	17	1679	-			529			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1586C>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766858	0.69878	.	.	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.25414	1.8	5.0	5.0	0.66597	.	0.000000	0.44097	D	0.000492	T	0.48259	0.1490	M	0.64997	1.995	0.80722	D	1	B;D	0.89917	0.114;1.0	B;D	0.91635	0.057;0.999	T	0.36261	-0.9755	10	0.44086	T	0.13	.	15.8573	0.78989	0.0:0.0:1.0:0.0	.	529;62	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	L	529	ENSP00000289968:P529L	ENSP00000289968:P529L	P	-	2	0	ARHGAP17	24858324	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.935000	0.87658	2.595000	0.87683	0.655000	0.94253	CCC		PASS	0.632	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		4	11	4	11	---	---	---	---
NSMCE1	197370	broad.mit.edu	37	16	27246603	27246603	+	Nonsense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:27246603T>A	ENST00000361439.4	-	3	253	c.154A>T	c.(154-156)Aag>Tag	p.K52*		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	52	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K52*(1)		endometrium(2)|large_intestine(2)|lung(3)	7						TCCTCCAACTTATCTACGGTG	0.438											OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002doi.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(154-156)AAG>TAG		non-SMC element 1 homolog							87.0	87.0	87.0					16																	27246603		2023	4191	6214	SO:0001587	stop_gained	197370				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding	g.chr16:27246603T>A	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.154A>T	16.37:g.27246603T>A	ENSP00000355077:p.Lys52*		OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	NSMCE1_uc002doj.1_RNA	p.K52*	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN			3	252	-			52					D3DWF6|Q9P045|Q9P049	Nonsense_Mutation	SNP	ENST00000361439.4	37	c.154A>T	CCDS10628.2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366506	0.82463	.	.	ENSG00000169189	ENST00000361439	.	.	.	5.4	3.11	0.35812	.	0.183579	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2334	0.31612	0.0:0.1676:0.0:0.8324	.	.	.	.	X	52	.	ENSP00000355077:K52X	K	-	1	0	NSMCE1	27154104	0.997000	0.39634	0.463000	0.27130	0.635000	0.38103	2.170000	0.42443	0.423000	0.26033	0.519000	0.50382	AAG		PASS	0.438	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3	NM_145080		27	16	27	16	---	---	---	---
IL21R	50615	broad.mit.edu	37	16	27441400	27441400	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:27441400G>T	ENST00000337929.3	+	2	481	c.8G>T	c.(7-9)cGt>cTt	p.R3L	IL21R_ENST00000564089.1_Missense_Mutation_p.R3L|IL21R_ENST00000395755.1_Missense_Mutation_p.R3L|IL21R_ENST00000395754.4_Missense_Mutation_p.R3L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	3					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.R3L(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCATGCCGCGTGGCTGGGCC	0.701			T	BCL6	NHL																																	uc002doq.1				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(7-9)CGT>CTT		interleukin 21 receptor precursor							19.0	20.0	20.0					16																	27441400		2191	4293	6484	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27441400G>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.8G>T	16.37:g.27441400G>T	ENSP00000338010:p.Arg3Leu					IL21R_uc002dor.1_Missense_Mutation_p.R3L|IL21R_uc002dos.1_Missense_Mutation_p.R3L	p.R3L	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			2	241	+			3					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.8G>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	g	9.646	1.140153	0.21205	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.34859	1.34;1.34;1.34	3.98	-0.366	0.12545	.	1.265560	0.05313	N	0.525215	T	0.24044	0.0582	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19549	-1.0302	10	0.30854	T	0.27	-0.7931	2.2152	0.03958	0.1001:0.1705:0.3791:0.3503	.	3	Q9HBE5	IL21R_HUMAN	L	3	ENSP00000338010:R3L;ENSP00000379104:R3L;ENSP00000379103:R3L	ENSP00000338010:R3L	R	+	2	0	IL21R	27348901	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.587000	0.05780	-0.021000	0.14009	-0.158000	0.13435	CGT		PASS	0.701	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		3	19	3	19	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27480717	27480717	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:27480717C>T	ENST00000356183.4	-	32	4984	c.4969G>A	c.(4969-4971)Gtc>Atc	p.V1657I	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V1657I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1657					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.V1657I(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						CGGGTGCTGACGATGCCGGGG	0.637																																						uc002dov.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(4969-4971)GTC>ATC		general transcription factor IIIC, polypeptide							136.0	101.0	113.0					16																	27480717		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27480717C>T	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.4969G>A	16.37:g.27480717C>T	ENSP00000348510:p.Val1657Ile					GTF3C1_uc002dou.2_Missense_Mutation_p.V1657I	p.V1657I	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			32	5009	-			1657					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4969G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803989	0.50315	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27256	1.68	4.24	1.22	0.21188	.	0.000000	0.64402	D	0.000003	T	0.22437	0.0541	M	0.75447	2.3	0.29723	N	0.838459	P;B	0.35493	0.505;0.374	B;B	0.23275	0.045;0.028	T	0.12116	-1.0560	10	0.49607	T	0.09	-14.8325	9.0201	0.36195	0.0:0.7674:0.0:0.2326	.	1657;1657	Q12789;Q12789-3	TF3C1_HUMAN;.	I	1657;1653	ENSP00000348510:V1657I	ENSP00000348510:V1657I	V	-	1	0	GTF3C1	27388218	0.768000	0.28519	0.951000	0.38953	0.947000	0.59692	0.499000	0.22546	0.108000	0.17862	0.491000	0.48974	GTC		PASS	0.637	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		3	16	3	16	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27503961	27503961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:27503961C>A	ENST00000356183.4	-	18	2965	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.E984*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	984					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.E984*(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						TGAAACTTTTCCGTGGGACCA	0.498																																						uc002dov.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2950-2952)GAA>TAA		general transcription factor IIIC, polypeptide							146.0	152.0	150.0					16																	27503961		2197	4300	6497	SO:0001587	stop_gained	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503961C>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.2950G>T	16.37:g.27503961C>A	ENSP00000348510:p.Glu984*					GTF3C1_uc002dou.2_Nonsense_Mutation_p.E984*	p.E984*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			18	2990	-			984					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Nonsense_Mutation	SNP	ENST00000356183.4	37	c.2950G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	43	9.831132	0.99275	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-18.9465	18.8685	0.92303	0.0:1.0:0.0:0.0	.	.	.	.	X	984;982	.	ENSP00000348510:E984X	E	-	1	0	GTF3C1	27411462	1.000000	0.71417	0.937000	0.37676	0.983000	0.72400	7.487000	0.81328	2.547000	0.85894	0.655000	0.94253	GAA		PASS	0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		58	63	58	63	---	---	---	---
CCDC101	112869	broad.mit.edu	37	16	28592408	28592408	+	Silent	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:28592408C>G	ENST00000317058.3	+	2	205	c.18C>G	c.(16-18)gcC>gcG	p.A6A		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	6					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)	p.A6A(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TCGTGTCTGCCGATTCCCGCA	0.557																																						uc002dqf.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(16-18)GCC>GCG		coiled-coil domain containing 101							61.0	54.0	56.0					16																	28592408		2197	4300	6497	SO:0001819	synonymous_variant	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28592408C>G	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.18C>G	16.37:g.28592408C>G						uc010vct.1_Intron	p.A6A	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN			2	203	+			6			Potential.		Q96MF5	Silent	SNP	ENST00000317058.3	37	c.18C>G	CCDS10635.1																																																																																				PASS	0.557	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		3	24	3	24	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29990517	29990517	+	Splice_Site	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:29990517G>T	ENST00000308893.4	+	7	1494	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	TAOK2_ENST00000543033.1_Splice_Site_p.D151Y|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000279394.3_Splice_Site_p.D151Y	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.D151Y(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTCTGGCAGGGATGTGAAGGC	0.562																																						uc002dva.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(451-453)GAT>TAT		TAO kinase 2 isoform 2							128.0	129.0	129.0					16																	29990517		2197	4300	6497	SO:0001630	splice_region_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29990517G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.450-1G>T	16.37:g.29990517G>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.D151Y|TAOK2_uc002dvc.1_Missense_Mutation_p.D151Y|TAOK2_uc010bzm.1_Missense_Mutation_p.D151Y|TAOK2_uc002dvd.1_5'Flank	p.D151Y	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			7	1234	+			151			Protein kinase.	Proton acceptor (By similarity).	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.451G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152433	0.78001	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	D;D;D	0.93076	-3.16;-3.16;-3.16	5.43	5.43	0.79202	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	D	0.98391	0.9465	H	0.99182	4.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99585	1.0974	9	.	.	.	.	18.3871	0.90470	0.0:0.0:1.0:0.0	.	335;151;151;151	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	Y	151	ENSP00000310094:D151Y;ENSP00000440336:D151Y;ENSP00000279394:D151Y	.	D	+	1	0	TAOK2	29898018	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.784000	0.99039	2.708000	0.92522	0.467000	0.42956	GAT		PASS	0.562	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	Missense_Mutation	12	32	12	32	---	---	---	---
KAT8	84148	broad.mit.edu	37	16	31131698	31131698	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:31131698C>T	ENST00000543774.2	+	4	660	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	KAT8_ENST00000219797.4_Silent_p.L109L|KAT8_ENST00000448516.2_Silent_p.L109L|RP11-196G11.4_ENST00000576336.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	109	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.L109L(1)									CAAGAACCGGCTGGCGCTGAC	0.577																																						uc002eay.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(325-327)CTG>TTG		MYST histone acetyltransferase 1 isoform 1							62.0	60.0	61.0					16																	31131698		2197	4300	6497	SO:0001819	synonymous_variant	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31131698C>T	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.325C>T	16.37:g.31131698C>T						MYST1_uc002eax.2_Silent_p.L109L	p.L109L	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN			3	343	+			109			Chromo.		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	c.325C>T	CCDS10706.1																																																																																				PASS	0.577	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		21	41	21	41	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31373414	31373414	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:31373414G>T	ENST00000268296.4	+	11	1226	c.1105G>T	c.(1105-1107)Gct>Tct	p.A369S	ITGAX_ENST00000562522.1_Missense_Mutation_p.A369S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	369					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.A369S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGTTCTGGGGGCTGTGGGGAG	0.582																																						uc002ebu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1105-1107)GCT>TCT		integrin alpha X precursor							94.0	97.0	96.0					16																	31373414		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373414G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1105G>T	16.37:g.31373414G>T	ENSP00000268296:p.Ala369Ser					ITGAX_uc002ebt.2_Missense_Mutation_p.A369S|ITGAX_uc010vfk.1_Missense_Mutation_p.A19S	p.A369S	NM_000887	NP_000878	P20702	ITAX_HUMAN			11	1172	+			369			FG-GAP 3.|Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1105G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	g	19.97	3.925923	0.73327	.	.	ENSG00000140678	ENST00000268296	T	0.44881	0.91	4.5	4.5	0.54988	.	.	.	.	.	T	0.64472	0.2601	M	0.77616	2.38	0.38438	D	0.946627	D	0.89917	1.0	D	0.87578	0.998	T	0.70077	-0.4971	9	0.49607	T	0.09	.	14.4899	0.67645	0.0:0.0:1.0:0.0	.	369	P20702	ITAX_HUMAN	S	369	ENSP00000268296:A369S	ENSP00000268296:A369S	A	+	1	0	ITGAX	31280915	0.952000	0.32445	1.000000	0.80357	0.897000	0.52465	2.786000	0.47790	2.217000	0.71921	0.580000	0.79431	GCT		PASS	0.582	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		5	150	5	150	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31434716	31434716	+	Missense_Mutation	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:31434716T>G	ENST00000389202.2	+	25	2952	c.2903T>G	c.(2902-2904)tTc>tGc	p.F968C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	968					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.F968C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCATTAACTTCTGGGTTCCT	0.527																																						uc002ebv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2902-2904)TTC>TGC		integrin, alpha D precursor							179.0	154.0	162.0					16																	31434716		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31434716T>G	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2903T>G	16.37:g.31434716T>G	ENSP00000373854:p.Phe968Cys					ITGAD_uc010cap.1_Missense_Mutation_p.F969C	p.F968C	NM_005353	NP_005344	Q13349	ITAD_HUMAN			25	2952	+			968			Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2903T>G	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326003	0.41197	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.51574	0.7	5.24	5.24	0.73138	Integrin alpha-2 (1);	.	.	.	.	T	0.69477	0.3115	M	0.82193	2.58	0.33619	D	0.604508	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80625	-0.1299	9	0.72032	D	0.01	.	11.5271	0.50586	0.0:0.0:0.0:1.0	.	984;968	Q59H14;Q13349	.;ITAD_HUMAN	C	984;968	ENSP00000373854:F968C	ENSP00000373854:F968C	F	+	2	0	ITGAD	31342217	0.991000	0.36638	0.823000	0.32752	0.017000	0.09413	4.186000	0.58337	1.951000	0.56629	0.528000	0.53228	TTC		PASS	0.527	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		35	46	35	46	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51174429	51174429	+	Silent	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:51174429G>C	ENST00000251020.4	-	2	1737	c.1704C>G	c.(1702-1704)ccC>ccG	p.P568P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Silent_p.P471P	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	568					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P568P(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTTGATGAAGGGTATGAGGC	0.612																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(1702-1704)CCC>CCG		sal-like 1 isoform a							45.0	50.0	48.0					16																	51174429		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174429G>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1704C>G	16.37:g.51174429G>C						SALL1_uc010vgr.1_Silent_p.P471P|SALL1_uc010cbv.2_Intron	p.P568P	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1735	-		all_cancers(37;0.0322)	568					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1704C>G	CCDS10747.1																																																																																				PASS	0.612	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		13	33	13	33	---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55733543	55733543	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:55733543T>C	ENST00000379906.2	+	11	1822	c.1567T>C	c.(1567-1569)Ttc>Ctc	p.F523L	SLC6A2_ENST00000561820.1_Missense_Mutation_p.F523L|SLC6A2_ENST00000567238.1_Missense_Mutation_p.F418L|SLC6A2_ENST00000414754.3_Missense_Mutation_p.F523L|SLC6A2_ENST00000566163.1_Missense_Mutation_p.F478L|SLC6A2_ENST00000568943.1_Missense_Mutation_p.F523L|SLC6A2_ENST00000219833.8_Missense_Mutation_p.F523L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	523					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.F523L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTGCTGGAAGTTCGTCAGTCC	0.582																																						uc002eif.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|pancreas(2)	8						c.(1567-1569)TTC>CTC		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						253.0	173.0	200.0					16																	55733543		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55733543T>C		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1567T>C	16.37:g.55733543T>C	ENSP00000369237:p.Phe523Leu					SLC6A2_uc010ccd.2_Missense_Mutation_p.F523L|SLC6A2_uc002eig.2_Missense_Mutation_p.F523L|SLC6A2_uc002eih.2_Missense_Mutation_p.F523L|SLC6A2_uc002eii.2_Missense_Mutation_p.F418L|SLC6A2_uc002eij.2_Missense_Mutation_p.F237L	p.F523L	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	12	1678	+			523			Helical; Name=11; (Potential).		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1567T>C	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735673	0.69189	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.75477	-0.94;-0.94;-0.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.74261	0.3693	L	0.57536	1.79	0.58432	D	0.999999	B;B;B;B	0.31581	0.329;0.058;0.329;0.329	B;B;B;B	0.37304	0.246;0.105;0.246;0.246	T	0.74031	-0.3795	10	0.46703	T	0.11	.	14.6862	0.69052	0.0:0.0:0.0:1.0	.	523;237;418;523	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	L	523;237;523;523	ENSP00000394956:F523L;ENSP00000369237:F523L;ENSP00000219833:F523L	ENSP00000219833:F523L	F	+	1	0	SLC6A2	54291044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.607000	0.82883	2.099000	0.63709	0.528000	0.53228	TTC		PASS	0.582	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			7	23	7	23	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56904619	56904619	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:56904619T>C	ENST00000563236.1	+	6	848	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P	SLC12A3_ENST00000566786.1_Missense_Mutation_p.S274P|SLC12A3_ENST00000438926.2_Missense_Mutation_p.S275P|SLC12A3_ENST00000262502.5_Missense_Mutation_p.S274P			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	275					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.S275P(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCTGGCCATCTCCCTGGCTGG	0.637																																						uc010ccm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(823-825)TCC>CCC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						73.0	57.0	63.0					16																	56904619		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56904619T>C		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.823T>C	16.37:g.56904619T>C	ENSP00000456149:p.Ser275Pro					SLC12A3_uc002ekd.3_Missense_Mutation_p.S275P|SLC12A3_uc010ccn.2_Missense_Mutation_p.S274P	p.S275P	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			6	852	+			275			Helical; (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.823T>C	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048871	0.75846	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.04	3.93	0.45458	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	M	0.87758	2.905	0.58432	D	0.999998	D;D;D	0.71674	0.997;0.996;0.998	D;D;D	0.75020	0.953;0.985;0.984	T	0.81720	-0.0804	9	0.66056	D	0.02	.	12.0272	0.53377	0.0:0.0:0.1446:0.8554	.	274;275;275	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	P	274;275	.	ENSP00000262502:S275P	S	+	1	0	SLC12A3	55462120	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.126000	0.57937	0.735000	0.32537	0.460000	0.39030	TCC		PASS	0.637	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			8	24	8	24	---	---	---	---
ARL2BP	23568	broad.mit.edu	37	16	57284369	57284369	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:57284369A>T	ENST00000219204.3	+	5	610	c.340A>T	c.(340-342)Acc>Tcc	p.T114S	RP11-407G23.3_ENST00000564376.1_RNA|RP11-407G23.4_ENST00000562409.1_RNA|ARL2BP_ENST00000562023.1_Missense_Mutation_p.T74S	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	114					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)	p.T114S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						CATGCTGCTCACCTTCACAGA	0.408																																						uc002elf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)ACC>TCC		binder of Arl Two							140.0	117.0	125.0					16																	57284369		2198	4300	6498	SO:0001583	missense	23568				maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity	g.chr16:57284369A>T	AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"""binder of Arl2"""	615407	"""retinitis pigmentosa 66 (autosomal recessive)"""	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.340A>T	16.37:g.57284369A>T	ENSP00000219204:p.Thr114Ser					ARL2BP_uc010vhl.1_Missense_Mutation_p.T114S	p.T114S	NM_012106	NP_036238	Q9Y2Y0	AR2BP_HUMAN			5	582	+			114					B3KQJ5|Q504R0	Missense_Mutation	SNP	ENST00000219204.3	37	c.340A>T	CCDS10776.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231689	0.58777	.	.	ENSG00000102931	ENST00000219204	T	0.42131	0.98	5.55	5.55	0.83447	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.000000	0.85682	U	0.000000	T	0.47673	0.1458	M	0.63843	1.955	0.80722	D	1	P;B	0.35551	0.509;0.046	B;B	0.41412	0.356;0.091	T	0.42464	-0.9450	10	0.34782	T	0.22	-7.1271	15.3609	0.74472	1.0:0.0:0.0:0.0	.	82;114	B4DQD8;Q9Y2Y0	.;AR2BP_HUMAN	S	114	ENSP00000219204:T114S	ENSP00000219204:T114S	T	+	1	0	ARL2BP	55841870	1.000000	0.71417	0.996000	0.52242	0.664000	0.39144	8.255000	0.89846	2.117000	0.64856	0.460000	0.39030	ACC		PASS	0.408	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257334.2	NM_012106		12	42	12	42	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66424464	66424464	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:66424464C>A	ENST00000341529.3	+	6	1088	c.940C>A	c.(940-942)Cac>Aac	p.H314N	CDH5_ENST00000563425.2_Missense_Mutation_p.H314N	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.H314N(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AAACCCCGCCCACAACGAGGG	0.562																																						uc002eom.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(940-942)CAC>AAC		cadherin 5, type 2 preproprotein							87.0	74.0	79.0					16																	66424464		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66424464C>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.940C>A	16.37:g.66424464C>A	ENSP00000344115:p.His314Asn					CDH5_uc002eon.1_Missense_Mutation_p.H314N	p.H314N	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	6	1096	+		Ovarian(137;0.0955)	314			Cadherin 3.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.940C>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	6.612	0.481328	0.12581	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.50813	0.73	5.78	3.73	0.42828	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31670	0.0804	N	0.20483	0.58	0.31433	N	0.67286	B	0.09022	0.002	B	0.10450	0.005	T	0.19516	-1.0303	9	0.59425	D	0.04	.	8.1096	0.30907	0.2681:0.587:0.1448:0.0	.	314	P33151	CADH5_HUMAN	N	314;314;55	ENSP00000344115:H314N	ENSP00000344115:H314N	H	+	1	0	CDH5	64981965	0.026000	0.19158	0.036000	0.18154	0.111000	0.19643	3.016000	0.49607	2.894000	0.99253	0.655000	0.94253	CAC		PASS	0.562	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		14	32	14	32	---	---	---	---
SLC7A6OS	84138	broad.mit.edu	37	16	68338008	68338008	+	Missense_Mutation	SNP	A	A	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:68338008A>C	ENST00000263997.6	-	3	617	c.599T>G	c.(598-600)aTt>aGt	p.I200S		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	200					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I200S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CAAGTAGTAAATGTCATACAC	0.517																																						uc002evw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)ATT>AGT		solute carrier family 7, member 6 opposite							211.0	191.0	198.0					16																	68338008		2198	4300	6498	SO:0001583	missense	84138				protein transport	cytoplasm|nucleus		g.chr16:68338008A>C		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.599T>G	16.37:g.68338008A>C	ENSP00000263997:p.Ile200Ser						p.I200S	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	3	618	-		Ovarian(137;0.192)	200					Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	c.599T>G	CCDS10865.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692955	0.88735	.	.	ENSG00000103061	ENST00000263997	T	0.22134	1.97	5.79	5.79	0.91817	.	0.054131	0.64402	D	0.000001	T	0.48502	0.1503	M	0.79926	2.475	0.58432	D	0.999996	D	0.89917	1.0	D	0.74674	0.984	T	0.52320	-0.8591	10	0.66056	D	0.02	-20.6791	14.0843	0.64944	1.0:0.0:0.0:0.0	.	200	Q96CW6	S7A6O_HUMAN	S	200	ENSP00000263997:I200S	ENSP00000263997:I200S	I	-	2	0	SLC7A6OS	66895509	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.410000	0.90225	2.223000	0.72356	0.454000	0.30748	ATT		PASS	0.517	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		51	55	51	55	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70891612	70891612	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:70891612G>T	ENST00000393567.2	-	72	12441	c.12291C>A	c.(12289-12291)ctC>ctA	p.L4097L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4097					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)		p.L4096L(1)|p.L4048L(1)		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)				CCTTACCAATGAGGAGAGAGC	0.493																																						uc002ezr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(12286-12288)CTC>CTA		hydrocephalus inducing isoform a							127.0	146.0	140.0					16																	70891612		1985	4185	6170	SO:0001819	synonymous_variant	54768							g.chr16:70891612G>T	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.12291C>A	16.37:g.70891612G>T						HYDIN_uc010cfy.2_RNA	p.L4096L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			72	12416	-		Ovarian(137;0.0654)	4097					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.12288C>A	CCDS59269.1																																																																																				PASS	0.493	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			8	40	8	40	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71098610	71098610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:71098610G>A	ENST00000393567.2	-	16	2359	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	HYDIN_ENST00000321489.5_Nonsense_Mutation_p.Q737*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.Q737*|HYDIN_ENST00000541601.1_Nonsense_Mutation_p.Q754*|HYDIN_ENST00000538248.1_Nonsense_Mutation_p.Q764*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.Q737*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	737					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)		p.Q737*(3)		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)				GAACTCACCTGAGGCTGGACC	0.458																																						uc002ezr.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)|skin(1)	2						c.(2209-2211)CAG>TAG		hydrocephalus inducing isoform a							43.0	41.0	42.0					16																	71098610		2197	4299	6496	SO:0001587	stop_gained	54768							g.chr16:71098610G>A	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.2209C>T	16.37:g.71098610G>A	ENSP00000377197:p.Gln737*					HYDIN_uc010cfz.1_Nonsense_Mutation_p.Q482*|HYDIN_uc002ezv.2_Nonsense_Mutation_p.Q737*|HYDIN_uc010vmc.1_Nonsense_Mutation_p.Q754*|HYDIN_uc010vmd.1_Nonsense_Mutation_p.Q764*	p.Q737*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			16	2337	-		Ovarian(137;0.0654)	737					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.2209C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	40	8.122166	0.98665	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601	.	.	.	4.8	4.8	0.61643	.	0.000000	0.31872	U	0.006930	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	16.6973	0.85339	0.0:0.0:1.0:0.0	.	.	.	.	X	737;737;737;737;737;764;754	.	ENSP00000313052:Q737X	Q	-	1	0	HYDIN	69656111	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.490000	0.81461	2.219000	0.72066	0.505000	0.49811	CAG		PASS	0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	13	5	13	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72984563	72984563	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:72984563C>T	ENST00000268489.5	-	3	3693	c.3021G>A	c.(3019-3021)aaG>aaA	p.K1007K	ZFHX3_ENST00000397992.5_Silent_p.K93K	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1007					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K1007K(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTGCACGTGCTTGTCTGTCT	0.602																																						uc002fck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(3019-3021)AAG>AAA		zinc finger homeobox 3 isoform A							163.0	127.0	139.0					16																	72984563		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72984563C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3021G>A	16.37:g.72984563C>T						ZFHX3_uc002fcl.2_Silent_p.K93K	p.K1007K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			3	3694	-		Ovarian(137;0.13)	1007			C2H2-type 7; atypical.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.3021G>A	CCDS10908.1																																																																																				PASS	0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		9	30	9	30	---	---	---	---
CHST6	4166	broad.mit.edu	37	16	75513561	75513561	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:75513561C>A	ENST00000332272.4	-	3	345	c.166G>T	c.(166-168)Gtg>Ttg	p.V56L	CHST6_ENST00000390664.2_Missense_Mutation_p.V56L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	56					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)	p.V56L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGTTGGCCCACGAAGGACGAG	0.682																																						uc002fef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GTG>TTG		carbohydrate (N-acetylglucosamine 6-O)							38.0	31.0	33.0					16																	75513561		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513561C>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.166G>T	16.37:g.75513561C>A	ENSP00000328983:p.Val56Leu					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.V56L	p.V56L	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	346	-			56			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.166G>T	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441079	0.25900	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99382	-5.8;-5.8	4.56	3.58	0.41010	Sulfotransferase domain (1);	0.233118	0.37053	N	0.002280	D	0.95557	0.8556	N	0.16266	0.395	0.37461	D	0.915224	B	0.13145	0.007	B	0.26969	0.075	D	0.91125	0.4933	10	0.02654	T	1	.	6.2173	0.20661	0.0:0.7056:0.1922:0.1023	.	56	Q9GZX3	CHST6_HUMAN	L	56	ENSP00000328983:V56L;ENSP00000375079:V56L	ENSP00000328983:V56L	V	-	1	0	CHST6	74071062	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.953000	0.29162	0.864000	0.35578	0.591000	0.81541	GTG		PASS	0.682	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		5	14	5	14	---	---	---	---
OSGIN1	29948	broad.mit.edu	37	16	83998779	83998779	+	Missense_Mutation	SNP	G	G	A	rs138968808		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:83998779G>A	ENST00000343939.2	+	7	1233	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	OSGIN1_ENST00000361711.3_Missense_Mutation_p.V201M|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V201M			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	284					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.V284M(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AGTCACAGCCGTGGAGTGGGG	0.657																																						uc002fha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)GTG>ATG		oxidative stress induced growth inhibitor 1		G	MET/VAL,MET/VAL,MET/VAL	3,4397	6.2+/-15.9	0,3,2197	82.0	92.0	88.0		850,601,601	4.8	1.0	16	dbSNP_134	88	0,8600		0,0,4300	no	missense,missense,missense	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	21,21,21	0,3,6497	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging,probably-damaging,probably-damaging	284/561,201/478,201/478	83998779	3,12997	2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998779G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.850G>A	16.37:g.83998779G>A	ENSP00000343376:p.Val284Met					OSGIN1_uc002fhb.2_Missense_Mutation_p.V201M|OSGIN1_uc002fhc.2_Missense_Mutation_p.V201M	p.V284M	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN			7	1233	+			284					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.850G>A		.	.	.	.	.	.	.	.	.	.	G	18.34	3.603157	0.66445	6.82E-4	0.0	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.26518	1.73;1.73;1.73	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.66913	-0.5803	10	0.87932	D	0	-5.644	16.8408	0.85968	0.0:0.0:1.0:0.0	.	284	Q9UJX0	OSGI1_HUMAN	M	284;201;201	ENSP00000343376:V284M;ENSP00000355374:V201M;ENSP00000376983:V201M	ENSP00000343376:V284M	V	+	1	0	OSGIN1	82556280	1.000000	0.71417	0.978000	0.43139	0.383000	0.30230	5.260000	0.65490	2.211000	0.71520	0.467000	0.42956	GTG		PASS	0.657	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		24	52	24	52	---	---	---	---
KIAA0513	9764	broad.mit.edu	37	16	85111073	85111073	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:85111073C>T	ENST00000566428.1	+	6	1248	c.617C>T	c.(616-618)gCg>gTg	p.A206V	KIAA0513_ENST00000538274.1_Missense_Mutation_p.A206V|KIAA0513_ENST00000258180.3_Missense_Mutation_p.A206V|KIAA0513_ENST00000567328.1_Missense_Mutation_p.A206V			O60268	K0513_HUMAN	KIAA0513	206						cytoplasm (GO:0005737)		p.A206V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GAGAAGCCCGCGGGCAGCATC	0.617																																						uc002fiu.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(616-618)GCG>GTG		hypothetical protein LOC9764							33.0	38.0	36.0					16																	85111073		2198	4300	6498	SO:0001583	missense	9764					cytoplasm		g.chr16:85111073C>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.617C>T	16.37:g.85111073C>T	ENSP00000457408:p.Ala206Val					KIAA0513_uc002fis.3_Missense_Mutation_p.A206V|KIAA0513_uc010voj.1_Missense_Mutation_p.A206V|KIAA0513_uc002fit.2_Missense_Mutation_p.A206V	p.A206V	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	6	837	+			206					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.617C>T	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258904	0.23051	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.47177	0.86;0.85	5.4	3.45	0.39498	.	0.423880	0.26507	N	0.023983	T	0.33847	0.0877	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.27123	-1.0083	10	0.56958	D	0.05	-13.9444	10.5437	0.45047	0.0:0.8428:0.0:0.1572	.	206;206	B4DSS5;O60268	.;K0513_HUMAN	V	206	ENSP00000446439:A206V;ENSP00000258180:A206V	ENSP00000258180:A206V	A	+	2	0	KIAA0513	83668574	0.000000	0.05858	0.007000	0.13788	0.022000	0.10575	-0.026000	0.12392	0.652000	0.30806	0.561000	0.74099	GCG		PASS	0.617	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		10	45	10	45	---	---	---	---
JPH3	57338	broad.mit.edu	37	16	87717830	87717831	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr16:87717830_87717831AC>TT	ENST00000284262.2	+	3	1485_1486	c.1243_1244AC>TT	c.(1243-1245)ACt>TTt	p.T415F	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	415	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.T415S(1)|p.T415I(1)|p.T415F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGCCAGGATCACTGCCAAAGAG	0.658																																						uc002fkd.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1243-1245)ACT>TCT|c.(1243-1245)ACT>ATT		junctophilin 3																																				SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87717830A>T|g.chr16:87717831C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	Exception_encountered	16.37:g.87717830_87717831delinsTT	ENSP00000284262:p.Thr415Phe					JPH3_uc010vou.1_RNA	p.T415S|p.T415I	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	3	1497|1498	+			415			Ala-rich.|Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.1243A>T|c.1244C>T	CCDS10962.1																																																																																				PASS	0.658	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			11|12	17	11	17	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2995615	2995615	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:2995615G>T	ENST00000331459.1	-	1	675	c.676C>A	c.(676-678)Ctc>Atc	p.L226I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	226					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.L226I(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTATTCTGAGGATGGCTCTG	0.453																																						uc010vrb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(676-678)CTC>ATC		olfactory receptor, family 1, subfamily D,							107.0	108.0	108.0					17																	2995615		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.chr17:2995615G>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.676C>A	17.37:g.2995615G>T	ENSP00000327585:p.Leu226Ile						p.L226I	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	676	-			226			Cytoplasmic (Potential).		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.676C>A	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.738269	0.30774	.	.	ENSG00000184166	ENST00000331459	T	0.00302	8.2	3.21	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	M	0.70842	2.15	0.09310	N	1	P	0.44946	0.846	P	0.55222	0.771	T	0.44997	-0.9291	9	0.59425	D	0.04	.	7.3524	0.26700	0.2278:0.0:0.7722:0.0	.	226	P34982	OR1D2_HUMAN	I	226	ENSP00000327585:L226I	ENSP00000327585:L226I	L	-	1	0	OR1D2	2942365	0.000000	0.05858	0.316000	0.25252	0.484000	0.33280	-1.056000	0.03489	0.100000	0.17581	0.543000	0.68304	CTC		PASS	0.453	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		30	13	30	13	---	---	---	---
OR1E1	8387	broad.mit.edu	37	17	3300975	3300975	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:3300975G>T	ENST00000322608.2	-	1	729	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	244					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H244N(1)		endometrium(3)|large_intestine(2)|lung(5)	10						ACAGACAGGTGGGAGCCACAA	0.458																																						uc002fvj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)CAC>AAC		olfactory receptor, family 1, subfamily E,							84.0	82.0	83.0					17																	3300975		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3300975G>T	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.730C>A	17.37:g.3300975G>T	ENSP00000313384:p.His244Asn						p.H244N	NM_003553	NP_003544	P30953	OR1E1_HUMAN			1	730	-			244			Helical; Name=6; (Potential).		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.730C>A	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704006	0.68501	.	.	ENSG00000180016	ENST00000322608	T	0.00314	8.14	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.01592	0.0051	H	0.99507	4.6	0.51233	D	0.999914	D	0.71674	0.998	D	0.73708	0.981	T	0.06570	-1.0819	10	0.87932	D	0	.	16.3395	0.83078	0.0:0.0:1.0:0.0	.	244	P30953	OR1E1_HUMAN	N	244	ENSP00000313384:H244N	ENSP00000313384:H244N	H	-	1	0	OR1E1	3247725	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	7.333000	0.79214	2.449000	0.82847	0.591000	0.81541	CAC		PASS	0.458	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		21	13	21	13	---	---	---	---
PHF23	79142	broad.mit.edu	37	17	7139892	7139892	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:7139892A>G	ENST00000320316.3	-	4	580	c.354T>C	c.(352-354)cgT>cgC	p.R118R	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000576955.1_5'UTR|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000454255.2_Silent_p.R114R	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	118							zinc ion binding (GO:0008270)	p.R118R(1)		breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGGCCTGCAGACGAGAGAAAG	0.537																																						uc002gfa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(352-354)CGT>CGC		PHD finger protein 23							88.0	98.0	95.0					17																	7139892		1959	4149	6108	SO:0001819	synonymous_variant	79142						zinc ion binding	g.chr17:7139892A>G	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.354T>C	17.37:g.7139892A>G						DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Intron|PHF23_uc010cma.2_5'UTR	p.R118R	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			4	581	-			118					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Silent	SNP	ENST00000320316.3	37	c.354T>C	CCDS42250.1																																																																																				PASS	0.537	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		26	42	26	42	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495861	7495861	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:7495861T>C	ENST00000250113.7	-	15	2120	c.1786A>G	c.(1786-1788)Aat>Gat	p.N596D	SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|MPDU1_ENST00000423172.2_3'UTR|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	596						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N596D(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCAGTCCGATTACCACGGTTA	0.552																																						uc002gia.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1786-1788)AAT>GAT		fragile X mental retardation syndrome related							152.0	156.0	155.0					17																	7495861		2027	4165	6192	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495861T>C	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1786A>G	17.37:g.7495861T>C	ENSP00000250113:p.Asn596Asp					MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	p.N596D	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2013	-			596					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1786A>G	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.592605	0.28357	.	.	ENSG00000129245	ENST00000250113	T	0.47177	0.85	4.89	4.89	0.63831	.	0.182271	0.48286	D	0.000182	T	0.28797	0.0714	N	0.22421	0.69	0.42608	D	0.993304	P	0.38535	0.635	B	0.27887	0.084	T	0.20107	-1.0285	10	0.51188	T	0.08	-8.7791	11.0702	0.47999	0.0:0.0:0.0:1.0	.	596	P51116	FXR2_HUMAN	D	596	ENSP00000250113:N596D	ENSP00000250113:N596D	N	-	1	0	FXR2	7436586	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.399000	0.59703	2.187000	0.69744	0.533000	0.62120	AAT		PASS	0.552	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			57	31	57	31	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655|rs397516437		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:7577556C>A	ENST00000269305.4	-	7	914	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000420246.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000455263.2_Missense_Mutation_p.C242F	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCGCCCATGCAGGAACTGTT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM910618	TP53	M	rs121912655	c.(724-726)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							140.0	107.0	119.0					17																	7577556		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.chr17:7577556C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.725G>T	17.37:g.7577556C>A	ENSP00000269305:p.Cys242Phe	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.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	p.C242F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	919	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	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.725G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366336	0.82463	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	0.80722	D	1	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242F;ENSP00000352610:C242F;ENSP00000269305:C242F;ENSP00000398846:C242F;ENSP00000391127:C242F;ENSP00000391478:C242F;ENSP00000425104:C110F;ENSP00000423862:C149F	ENSP00000269305:C242F	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC		PASS	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	6	12	6	---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7606164	7606164	+	Splice_Site	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:7606164C>T	ENST00000316024.5	+	8	3616	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000534050.1_Splice_Site_p.P390L|WRAP53_ENST00000457584.2_Splice_Site_p.P423L|WRAP53_ENST00000396463.2_Splice_Site_p.P423L|WRAP53_ENST00000431639.2_Splice_Site_p.P423L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	423					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)	p.P423L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GATCTGGACCCGTGAGTGGCT	0.607																																						uc010vuh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1267-1269)CCG>CTG		WD repeat domain 79 isoform 2							79.0	68.0	72.0					17																	7606164		2203	4300	6503	SO:0001630	splice_region_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7606164C>T	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1268+1C>T	17.37:g.7606164C>T						WRAP53_uc010vui.1_Missense_Mutation_p.P423L|WRAP53_uc002gip.2_Missense_Mutation_p.P423L|WRAP53_uc002gir.2_Missense_Mutation_p.P423L|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Missense_Mutation_p.P390L|EFNB3_uc002gis.2_5'Flank	p.P423L	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN			9	1423	+			423			WD 6.		B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP	ENST00000316024.5	37	c.1268C>T	CCDS11119.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346073	0.24426	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.28	3.28	0.37604	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.533090	0.18803	N	0.130730	T	0.67002	0.2847	M	0.82132	2.575	0.53005	D	0.999969	P;P	0.45715	0.865;0.835	B;B	0.37888	0.26;0.202	T	0.71210	-0.4660	10	0.72032	D	0.01	-5.956	7.3945	0.26929	0.0:0.806:0.0:0.194	.	390;423	E9PMG4;Q9BUR4	.;WAP53_HUMAN	L	423;423;423;423;390	ENSP00000397219:P423L;ENSP00000324203:P423L;ENSP00000411061:P423L;ENSP00000379727:P423L;ENSP00000434999:P390L	ENSP00000324203:P423L	P	+	2	0	WRAP53	7546889	0.997000	0.39634	1.000000	0.80357	0.049000	0.14656	0.558000	0.23469	1.379000	0.46325	-0.234000	0.12200	CCG		PASS	0.607	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081	Missense_Mutation	24	5	24	5	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8215926	8215926	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:8215926C>A	ENST00000361926.3	+	2	679	c.569C>A	c.(568-570)aCc>aAc	p.T190N	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T190N	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	190					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T190N(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCTCCCCTCACCGGGAGTGGG	0.622																																						uc002glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(568-570)ACC>AAC		Rho guanine exchange factor 15							23.0	27.0	26.0					17																	8215926		2202	4300	6502	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215926C>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.569C>A	17.37:g.8215926C>A	ENSP00000355026:p.Thr190Asn					ARHGEF15_uc002glb.1_Missense_Mutation_p.T190N|ARHGEF15_uc002gld.2_Missense_Mutation_p.T190N|ARHGEF15_uc010vuw.1_Missense_Mutation_p.T190N	p.T190N	NM_173728	NP_776089	O94989	ARHGF_HUMAN			2	690	+			190					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.569C>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	3.894	-0.023390	0.07634	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.45668	0.89;0.89	5.65	0.0153	0.14103	.	2.344820	0.01367	N	0.012421	T	0.27900	0.0687	N	0.19112	0.55	0.09310	N	1	B;B;B	0.21520	0.023;0.057;0.01	B;B;B	0.14023	0.01;0.01;0.01	T	0.10965	-1.0607	10	0.22109	T	0.4	3.2904	6.5576	0.22469	0.0:0.3935:0.4418:0.1647	.	190;190;91	D3DTR7;O94989;B4DTR5	.;ARHGF_HUMAN;.	N	190;91;190	ENSP00000355026:T190N;ENSP00000412505:T190N	ENSP00000355026:T190N	T	+	2	0	ARHGEF15	8156651	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-0.078000	0.11375	0.039000	0.15632	0.555000	0.69702	ACC		PASS	0.622	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		14	8	14	8	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9792900	9792900	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:9792900G>T	ENST00000262441.5	+	13	2053	c.1540G>T	c.(1540-1542)Ggc>Tgc	p.G514C	GLP2R_ENST00000574745.1_Missense_Mutation_p.G334C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	514					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.G514C(3)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TGGGGAGCTGGGCGCCCAGCC	0.637																																						uc002gmd.1																			3	Substitution - Missense(3)		lung(3)	lung(2)|ovary(1)	3						c.(1540-1542)GGC>TGC		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						36.0	37.0	37.0					17																	9792900		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9792900G>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1540G>T	17.37:g.9792900G>T	ENSP00000262441:p.Gly514Cys						p.G514C	NM_004246	NP_004237	O95838	GLP2R_HUMAN			13	1540	+			514			Cytoplasmic (Potential).		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1540G>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415911	0.25552	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.56776	0.44	5.73	2.34	0.29019	.	0.189618	0.26119	N	0.026228	T	0.45677	0.1354	L	0.42245	1.32	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.34750	-0.9816	10	0.54805	T	0.06	.	3.5674	0.07905	0.2068:0.0:0.5928:0.2005	.	514	O95838	GLP2R_HUMAN	C	514	ENSP00000262441:G514C	ENSP00000262441:G514C	G	+	1	0	GLP2R	9733625	0.002000	0.14202	0.003000	0.11579	0.230000	0.25150	1.275000	0.33144	1.435000	0.47434	0.655000	0.94253	GGC		PASS	0.637	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			3	20	3	20	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10318833	10318833	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:10318833C>A	ENST00000403437.2	-	7	698	c.604G>T	c.(604-606)Gca>Tca	p.A202S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	202	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A202S(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGTAACTGCAATTGTTGCA	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(604-606)GCA>TCA		myosin, heavy chain 8, skeletal muscle,							141.0	133.0	136.0					17																	10318833		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318833C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.604G>T	17.37:g.10318833C>A	ENSP00000384330:p.Ala202Ser					uc002gml.1_Intron	p.A202S	NM_002472	NP_002463	P13535	MYH8_HUMAN			7	699	-			202			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.604G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819527	0.71028	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86769	-2.17	4.44	4.44	0.53790	Myosin head, motor domain (2);	0.000000	0.41396	U	0.000888	D	0.91680	0.7370	L	0.43152	1.355	0.49213	D	0.999766	B	0.30937	0.301	P	0.57283	0.817	D	0.91812	0.5460	10	0.66056	D	0.02	.	17.2389	0.87007	0.0:1.0:0.0:0.0	.	202	P13535	MYH8_HUMAN	S	202	ENSP00000384330:A202S	ENSP00000252173:A202S	A	-	1	0	MYH8	10259558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.589000	0.61006	2.308000	0.77769	0.591000	0.81541	GCA		PASS	0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		29	16	29	16	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10549330	10549330	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:10549330G>A	ENST00000583535.1	-	11	1005	c.918C>T	c.(916-918)acC>acT	p.T306T	MYH3_ENST00000226209.7_Silent_p.T306T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	306	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.T306T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGTAAGGGTTGGTCGTAATAA	0.512											OREG0024181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gmq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(916-918)ACC>ACT		myosin, heavy chain 3, skeletal muscle,							121.0	111.0	115.0					17																	10549330		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10549330G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.918C>T	17.37:g.10549330G>A			OREG0024181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	665		p.T306T	NM_002470	NP_002461	P11055	MYH3_HUMAN			10	995	-			306			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.918C>T	CCDS11157.1																																																																																				PASS	0.512	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		22	11	22	11	---	---	---	---
NOS2	4843	broad.mit.edu	37	17	26092696	26092696	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:26092696G>T	ENST00000313735.6	-	20	2526	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	765	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.L765M(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AGGTAGTTCAGGCCTTGGCCA	0.622																																						uc002gzu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(2293-2295)CTG>ATG		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						31.0	34.0	33.0					17																	26092696		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26092696G>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2293C>A	17.37:g.26092696G>T	ENSP00000327251:p.Leu765Met						p.L765M	NM_000625	NP_000616	P35228	NOS2_HUMAN			20	2557	-			765			FAD-binding FR-type.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.2293C>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983503	0.35036	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.68624	-0.34	5.08	2.9	0.33743	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.504675	0.17789	N	0.161949	T	0.63367	0.2505	L	0.54863	1.705	0.21933	N	0.999467	B	0.31227	0.314	B	0.39706	0.307	T	0.58945	-0.7546	10	0.59425	D	0.04	.	7.9307	0.29901	0.0948:0.3134:0.5918:0.0	.	765	P35228	NOS2_HUMAN	M	765;726	ENSP00000327251:L765M	ENSP00000327251:L765M	L	-	1	2	NOS2	23116823	0.424000	0.25490	0.135000	0.22099	0.144000	0.21451	1.024000	0.30077	2.384000	0.81235	0.456000	0.33151	CTG		PASS	0.622	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		24	18	24	18	---	---	---	---
KRT18P55	284085	broad.mit.edu	37	17	26604071	26604071	+	RNA	SNP	A	A	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:26604071A>C	ENST00000577198.1	-	0	890				AC061975.8_ENST00000385109.1_RNA	NR_028334.1				keratin 18 pseudogene 55																		CAGGCTCCTAACTCTGTCCAG	0.567																																						uc002has.3																			0					0						c.(403-405)GTT>GGT		SubName: Full=Putative uncharacterized protein FLJ40504; SubName: Full=cDNA FLJ40504 fis, clone TESTI2045509, highly similar to KERATIN, TYPE I CYTOSKELETAL 18;							64.0	69.0	67.0					17																	26604071		2133	4264	6397			284085							g.chr17:26604071A>C			17q11.2	2013-06-25			ENSG00000265480	ENSG00000265480			26874	pseudogene	pseudogene							Standard	NR_028334		Approved		uc002has.3		OTTHUMG00000179422		17.37:g.26604071A>C							p.V135G	NM_173624	NP_775895				UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	3	500	-	all_lung(13;0.000238)|Lung NSC(42;0.000789)								Missense_Mutation	SNP	ENST00000577198.1	37	c.404T>G																																																																																					PASS	0.567	KRT18P55-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446194.1	NR_028334		39	53	39	53	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27958650	27958650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:27958650C>A	ENST00000269033.3	-	15	3632	c.3481G>T	c.(3481-3483)Gaa>Taa	p.E1161*	SSH2_ENST00000540801.1_Nonsense_Mutation_p.E1188*|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1161					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E1161*(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGACTTTCTTCCCAGCTAACC	0.512																																						uc002heo.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(3481-3483)GAA>TAA		slingshot 2							97.0	81.0	86.0					17																	27958650		2203	4300	6503	SO:0001587	stop_gained	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958650C>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3481G>T	17.37:g.27958650C>A	ENSP00000269033:p.Glu1161*					SSH2_uc010wbh.1_Nonsense_Mutation_p.E1188*	p.E1161*	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	3481	-			1161					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Nonsense_Mutation	SNP	ENST00000269033.3	37	c.3481G>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	40	8.471695	0.98827	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	.	.	.	5.45	2.11	0.27256	.	0.564551	0.18718	N	0.133118	.	.	.	.	.	.	0.42336	D	0.992314	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-3.1996	7.3043	0.26438	0.0:0.5946:0.2639:0.1414	.	.	.	.	X	1161;1188	.	ENSP00000269033:E1161X	E	-	1	0	SSH2	24982776	0.007000	0.16637	0.834000	0.33040	0.959000	0.62525	1.898000	0.39809	0.915000	0.36847	0.655000	0.94253	GAA		PASS	0.512	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		10	35	10	35	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27958751	27958751	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:27958751G>A	ENST00000269033.3	-	15	3531	c.3380C>T	c.(3379-3381)gCc>gTc	p.A1127V	SSH2_ENST00000540801.1_Missense_Mutation_p.A1154V|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1127					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A1127V(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCCAAACTGGCAGACAGTAA	0.542																																						uc002heo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3379-3381)GCC>GTC		slingshot 2							99.0	94.0	96.0					17																	27958751		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958751G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3380C>T	17.37:g.27958751G>A	ENSP00000269033:p.Ala1127Val					SSH2_uc010wbh.1_Missense_Mutation_p.A1154V	p.A1127V	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	3380	-			1127					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.3380C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	2.977	-0.211140	0.06140	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.09817	2.94;2.94	5.96	3.99	0.46301	.	0.937336	0.09038	N	0.857772	T	0.13713	0.0332	L	0.59436	1.845	0.22873	N	0.998624	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.22591	-1.0212	10	0.49607	T	0.09	-2.7317	8.9113	0.35555	0.2286:0.0:0.7714:0.0	.	1154;1127	F5H527;Q76I76	.;SSH2_HUMAN	V	1127;1154	ENSP00000269033:A1127V;ENSP00000444743:A1154V	ENSP00000269033:A1127V	A	-	2	0	SSH2	24982877	0.009000	0.17119	0.126000	0.21872	0.014000	0.08584	1.391000	0.34475	0.850000	0.35239	-0.137000	0.14449	GCC		PASS	0.542	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		11	44	11	44	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33475336	33475336	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:33475336G>T	ENST00000268876.5	+	2	151	c.54G>T	c.(52-54)caG>caT	p.Q18H	UNC45B_ENST00000378449.1_Missense_Mutation_p.Q18H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q18H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q18H|UNC45B_ENST00000591048.1_Missense_Mutation_p.Q18H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	18					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.Q18H(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGCATTTCCAGCTCCAGGACT	0.597																																						uc002hja.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(52-54)CAG>CAT		cardiomyopathy associated 4 isoform 1							76.0	71.0	73.0					17																	33475336		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33475336G>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.54G>T	17.37:g.33475336G>T	ENSP00000268876:p.Gln18His					UNC45B_uc002hjb.2_Missense_Mutation_p.Q18H|UNC45B_uc002hjc.2_Missense_Mutation_p.Q18H|UNC45B_uc010cto.2_Missense_Mutation_p.Q18H	p.Q18H	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			2	151	+		Ovarian(249;0.17)	18			TPR 1.		Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.54G>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573477	0.45902	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.78	3.74	0.42951	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.239318	0.44688	D	0.000424	T	0.62938	0.2469	L	0.49699	1.58	0.48395	D	0.999648	B;P;P	0.45283	0.18;0.855;0.767	B;P;P	0.57960	0.142;0.739;0.83	T	0.64601	-0.6369	10	0.87932	D	0	-24.732	7.3097	0.26467	0.24:0.0:0.76:0.0	.	18;18;18	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	18	ENSP00000378071:Q18H;ENSP00000268876:Q18H;ENSP00000412840:Q18H;ENSP00000367710:Q18H	ENSP00000268876:Q18H	Q	+	3	2	UNC45B	30499449	0.998000	0.40836	0.743000	0.31040	0.981000	0.71138	2.738000	0.47401	2.490000	0.84030	0.544000	0.68410	CAG		PASS	0.597	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		34	28	34	28	---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36705431	36705431	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:36705431G>C	ENST00000264659.7	-	16	3202	c.2978C>G	c.(2977-2979)cCc>cGc	p.P993R	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1027R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	865					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.P993R(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCGGTATCGGGGCACGGTCAA	0.632																																						uc002hqd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2977-2979)CCC>CGC		SNAP25-interacting protein							14.0	17.0	16.0					17																	36705431		1981	4131	6112	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36705431G>C		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2978C>G	17.37:g.36705431G>C	ENSP00000264659:p.Pro993Arg					SRCIN1_uc002hqf.1_Missense_Mutation_p.P865R|SRCIN1_uc002hqe.2_Missense_Mutation_p.P847R	p.P993R	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			16	3203	-			865			Pro-rich.		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2978C>G	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425845	0.83667	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.40756	1.02	5.29	5.29	0.74685	.	0.056345	0.64402	D	0.000001	T	0.49440	0.1557	L	0.47716	1.5	0.53688	D	0.999979	D;D;D	0.59357	0.985;0.985;0.97	P;P;P	0.52109	0.69;0.69;0.545	T	0.40459	-0.9562	10	0.36615	T	0.2	-26.0624	17.6994	0.88290	0.0:0.0:1.0:0.0	.	865;865;993	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	R	993;774;847	ENSP00000264659:P993R	ENSP00000264659:P993R	P	-	2	0	SRCIN1	33958957	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.309000	0.78937	2.474000	0.83562	0.555000	0.69702	CCC		PASS	0.632	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		15	3	15	3	---	---	---	---
KRTAP9-4	85280	broad.mit.edu	37	17	39406116	39406116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:39406116C>A	ENST00000334109.2	+	1	178	c.144C>A	c.(142-144)tgC>tgA	p.C48*		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	48	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.C48*(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGCTGCCAGCCTTGCT	0.647																																						uc002hwi.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(142-144)TGC>TGA		keratin associated protein 9-4							53.0	40.0	44.0					17																	39406116		2203	4298	6501	SO:0001587	stop_gained	85280					keratin filament		g.chr17:39406116C>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.144C>A	17.37:g.39406116C>A	ENSP00000334922:p.Cys48*					KRTAP9-9_uc010wfq.1_Intron	p.C48*	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	178	+		Breast(137;0.000496)	48			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Nonsense_Mutation	SNP	ENST00000334109.2	37	c.144C>A	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.757550	0.49468	.	.	ENSG00000241595;ENSG00000198083	ENST00000334109;ENST00000431129	.	.	.	2.44	2.44	0.29823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.5426	0.22388	0.2868:0.7131:0.0:0.0	.	.	.	.	X	48	.	ENSP00000334922:C48X	C	+	3	2	KRTAP9-4;KRTAP9-9	36659642	0.230000	0.23740	0.988000	0.46212	0.284000	0.27059	0.065000	0.14466	1.660000	0.50760	0.407000	0.27541	TGC		PASS	0.647	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			5	24	5	24	---	---	---	---
NKIRAS2	28511	broad.mit.edu	37	17	40180115	40180115	+	IGR	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:40180115A>T	ENST00000307641.5	+	0	2945				ZNF385C_ENST00000436535.3_Missense_Mutation_p.C374S|ZNF385C_ENST00000461831.1_5'UTR	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.C44S(1)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CAGAGAGCACAGTGGAAGGCA	0.682																																						uc002hyu.2																			1	Substitution - Missense(1)		lung(1)								c.(130-132)TGT>AGT		RecName: Full=Zinc finger protein 385C;							28.0	31.0	30.0					17																	40180115		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr17:40180115A>T	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503		17.37:g.40180115A>T							p.C44S							2	273	-								A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.130T>A	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.841342	0.91197	.	.	ENSG00000187595	ENST00000436535;ENST00000453355	D	0.98947	-5.26	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99445	1.0939	10	0.87932	D	0	-6.2734	15.3349	0.74244	1.0:0.0:0.0:0.0	.	292	Q66K41	Z385C_HUMAN	S	374	ENSP00000411514:C374S	ENSP00000411514:C374S	C	-	1	0	ZNF385C	37433641	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.844000	0.75390	2.021000	0.59480	0.528000	0.53228	TGT		PASS	0.682	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		10	42	10	42	---	---	---	---
NBR1	4077	broad.mit.edu	37	17	41341086	41341086	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:41341086G>C	ENST00000422280.1	+	7	889	c.430G>C	c.(430-432)Gac>Cac	p.D144H	NBR1_ENST00000341165.6_Missense_Mutation_p.D144H|NBR1_ENST00000590996.1_Missense_Mutation_p.D144H|NBR1_ENST00000389312.4_Missense_Mutation_p.D144H|NBR1_ENST00000589872.1_Missense_Mutation_p.D144H|NBR1_ENST00000542611.1_Missense_Mutation_p.D123H	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	144					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.D144H(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ATGTGACACAGACCAGCCTCA	0.468																																						uc010czd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(430-432)GAC>CAC		neighbor of BRCA1 gene 1							106.0	109.0	108.0					17																	41341086		1892	4133	6025	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41341086G>C	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.430G>C	17.37:g.41341086G>C	ENSP00000411250:p.Asp144His					NBR1_uc010diz.2_Missense_Mutation_p.D144H|NBR1_uc010whu.1_Missense_Mutation_p.D144H|NBR1_uc010whv.1_Missense_Mutation_p.D144H|NBR1_uc010whw.1_Missense_Mutation_p.D123H|NBR1_uc010whx.1_5'Flank	p.D144H	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	7	570	+		Breast(137;0.00086)	144					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.430G>C	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175024	0.57692	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.47869	1.46;0.83;1.46;1.43	5.87	2.76	0.32466	.	0.360443	0.32106	N	0.006575	T	0.56717	0.2004	M	0.63428	1.95	0.25515	N	0.987428	D;D;D	0.63880	0.993;0.993;0.985	P;P;P	0.61800	0.894;0.878;0.804	T	0.47598	-0.9105	10	0.51188	T	0.08	-3.3525	7.0754	0.25201	0.1541:0.1417:0.7042:0.0	.	123;144;144	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	H	144;123;144;144;144	ENSP00000411250:D144H;ENSP00000437545:D123H;ENSP00000343479:D144H;ENSP00000373963:D144H	ENSP00000343479:D144H	D	+	1	0	NBR1	38594612	0.956000	0.32656	0.393000	0.26258	0.740000	0.42216	1.470000	0.35354	0.373000	0.24621	0.591000	0.81541	GAC		PASS	0.468	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		6	48	6	48	---	---	---	---
GRN	2896	broad.mit.edu	37	17	42430088	42430088	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:42430088G>C	ENST00000053867.3	+	13	1766	c.1704G>C	c.(1702-1704)agG>agC	p.R568S	GRN_ENST00000589265.1_Missense_Mutation_p.R411S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	568					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.R568S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGCAGCCAGGGGTACCAAGT	0.657																																						uc002igp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1702-1704)AGG>AGC		granulin precursor							45.0	49.0	48.0					17																	42430088		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42430088G>C	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1704G>C	17.37:g.42430088G>C	ENSP00000053867:p.Arg568Ser					GRN_uc002igr.1_3'UTR	p.R568S	NM_002087	NP_002078	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	13	1923	+		Prostate(33;0.0181)	568					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1704G>C	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	G	9.750	1.167095	0.21621	.	.	ENSG00000030582	ENST00000053867;ENST00000357351;ENST00000393566	T	0.71461	-0.57	5.53	3.55	0.40652	Granulin (2);	0.699964	0.14173	N	0.336600	T	0.51822	0.1697	L	0.31526	0.94	0.33737	D	0.618934	B	0.10296	0.003	B	0.22152	0.038	T	0.50101	-0.8867	10	0.09084	T	0.74	-5.2103	4.7821	0.13208	0.1742:0.0:0.6541:0.1716	.	568	P28799	GRN_HUMAN	S	568;413;388	ENSP00000053867:R568S	ENSP00000053867:R568S	R	+	3	2	GRN	39785614	1.000000	0.71417	0.804000	0.32291	0.043000	0.13939	2.451000	0.44952	1.347000	0.45714	-0.224000	0.12420	AGG		PASS	0.657	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		31	50	31	50	---	---	---	---
CRHR1	1394	broad.mit.edu	37	17	43912051	43912051	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:43912051G>T	ENST00000398285.3	+	14	1256	c.1256G>T	c.(1255-1257)cGa>cTa	p.R419L	CRHR1_ENST00000314537.5_Missense_Mutation_p.R390L|CRHR1_ENST00000577353.1_Missense_Mutation_p.R376L|CRHR1_ENST00000352855.5_Missense_Mutation_p.R350L|CRHR1_ENST00000339069.5_Nonsense_Mutation_p.E244*|CRHR1_ENST00000293493.7_Missense_Mutation_p.R215L	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	419					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.R390L(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)		ATCCGTGCCCGAGTGGCCCGT	0.632																																					Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(1255-1257)CGA>CTA		corticotropin releasing hormone receptor 1							63.0	78.0	73.0					17																	43912051		2194	4295	6489	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43912051G>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.1256G>T	17.37:g.43912051G>T	ENSP00000381333:p.Arg419Leu					CRHR1_uc010wjx.1_Missense_Mutation_p.R215L|CRHR1_uc002ijp.2_Nonsense_Mutation_p.E244*|CRHR1_uc002ijm.2_Missense_Mutation_p.R390L|CRHR1_uc002ijn.2_Missense_Mutation_p.R350L|CRHR1_uc010dar.2_Missense_Mutation_p.R376L|CRHR1_uc010dao.2_Missense_Mutation_p.R289L|CRHR1_uc010daq.2_Missense_Mutation_p.R215L	p.R419L	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	14	1521	+	Colorectal(2;0.0416)		419			Cytoplasmic (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.1256G>T	CCDS45712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.413321|9.413321	0.99164|0.99164	.|.	.|.	ENSG00000120088|ENSG00000120088	ENST00000339069|ENST00000293493;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	.|T;T;T;T	.|0.69561	.|-0.41;-0.41;-0.41;-0.41	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.056668	.|0.64402	.|D	.|0.000001	.|T	.|0.80549	.|0.4644	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D	.|0.89917	.|0.997;1.0;0.942;0.997;0.995	.|D;D;P;D;D	.|0.71870	.|0.951;0.975;0.734;0.951;0.929	.|T	.|0.82252	.|-0.0549	.|10	0.87932|0.62326	D|D	0|0.03	.|.	16.3315|16.3315	0.83023|0.83023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|376;419;289;350;390	.|P34998-4;P34998;B3TIK8;P34998-3;P34998-2	.|.;CRFR1_HUMAN;.;.;.	X|L	244|215;419;390;376;350	.|ENSP00000293493:R215L;ENSP00000381333:R419L;ENSP00000326060:R390L;ENSP00000344068:R350L	ENSP00000340522:E244X|ENSP00000293493:R215L	E|R	+|+	1|2	0|0	CRHR1|CRHR1	41267832|41267832	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.875000|0.875000	0.50365|0.50365	9.793000|9.793000	0.99091|0.99091	2.451000|2.451000	0.82905|0.82905	0.555000|0.555000	0.69702|0.69702	GAG|CGA		PASS	0.632	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			13	11	13	11	---	---	---	---
SP6	80320	broad.mit.edu	37	17	45924907	45924907	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:45924907G>A	ENST00000536300.1	-	2	1220	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	SP6_ENST00000342234.2_Missense_Mutation_p.R297C	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	297					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|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.R297C(1)		large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						TCGTCCGAGCGCGTGAAGCGC	0.667																																						uc002img.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(889-891)CGC>TGC		Sp6 transcription factor							42.0	37.0	39.0					17																	45924907		2203	4300	6503	SO:0001583	missense	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45924907G>A		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.889C>T	17.37:g.45924907G>A	ENSP00000438209:p.Arg297Cys					SP6_uc002imh.1_Missense_Mutation_p.R297C	p.R297C	NM_199262	NP_954871	Q3SY56	SP6_HUMAN			2	1221	-			297			C2H2-type 2.		B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	c.889C>T	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150180	0.78001	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.07567	3.18;3.18	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000451	T	0.24812	0.0602	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00998	-1.1486	10	0.87932	D	0	.	15.9156	0.79512	0.0:0.0:1.0:0.0	.	297	Q3SY56	SP6_HUMAN	C	297	ENSP00000340799:R297C;ENSP00000438209:R297C	ENSP00000340799:R297C	R	-	1	0	SP6	43279906	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.658000	0.83755	2.267000	0.75376	0.462000	0.41574	CGC		PASS	0.667	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		4	29	4	29	---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48145587	48145587	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:48145587G>T	ENST00000320031.8	+	4	912	c.582G>T	c.(580-582)acG>acT	p.T194T	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Silent_p.T194T	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	194					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.T194T(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACCTGGAGACGGGCATGTGCC	0.592																																						uc010dbl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(580-582)ACG>ACT		integrin alpha 3 isoform a precursor							119.0	103.0	108.0					17																	48145587		2203	4300	6503	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48145587G>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.582G>T	17.37:g.48145587G>T						ITGA3_uc010dbm.2_Silent_p.T194T	p.T194T	NM_002204	NP_002195	P26006	ITA3_HUMAN			4	1046	+			194			FG-GAP 3.|Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.582G>T	CCDS11558.1																																																																																				PASS	0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		32	26	32	26	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50149697	50149697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:50149697G>A	ENST00000285273.4	-	3	1229	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	CA10_ENST00000340813.6_Nonsense_Mutation_p.Q46*|CA10_ENST00000442502.2_Nonsense_Mutation_p.Q40*|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000451037.2_Nonsense_Mutation_p.Q40*	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	40					brain development (GO:0007420)			p.Q40*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AAGCTTCCCTGGACCACCTCC	0.358																																						uc002itw.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(118-120)CAG>TAG		carbonic anhydrase X							133.0	126.0	128.0					17																	50149697		2203	4300	6503	SO:0001587	stop_gained	56934				brain development			g.chr17:50149697G>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.118C>T	17.37:g.50149697G>A	ENSP00000285273:p.Gln40*					CA10_uc002itv.3_Nonsense_Mutation_p.Q46*|CA10_uc002itx.3_Nonsense_Mutation_p.Q40*|CA10_uc002ity.3_Nonsense_Mutation_p.Q40*|CA10_uc002itz.2_Nonsense_Mutation_p.Q40*	p.Q40*	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		2	1104	-			40					B2R7J0|B4DGL6	Nonsense_Mutation	SNP	ENST00000285273.4	37	c.118C>T	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	48	13.961142	0.99772	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	.	.	.	6.17	6.17	0.99709	.	0.083649	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	40;40;40;46	.	.	Q	-	1	0	CA10	47504696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.517000	0.90555	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.358	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		21	33	21	33	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54428241	54428242	+	Nonsense_Mutation	DNP	TG	TG	AT			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:54428241_54428242TG>AT	ENST00000318698.2	+	4	347_348	c.312_313TG>AT	c.(310-315)tcTGag>tcATag	p.E105*	ANKFN1_ENST00000566473.2_Nonsense_Mutation_p.E105*	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	105								p.E105*(2)|p.S104S(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGAACCTCTCTGAGAAACTGAA	0.455																																						uc002iun.1																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(1)|ovary(1)	2						c.(310-312)TCT>TCA|c.(313-315)GAG>TAG		ankyrin-repeat and fibronectin type III domain																																				SO:0001587	stop_gained	162282							g.chr17:54428241T>A|g.chr17:54428242G>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	Exception_encountered	17.37:g.54428241_54428242delinsAT	ENSP00000321627:p.Glu105*						p.S104S|p.E105*	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			4	347|348	+			104|105						Silent|Nonsense_Mutation	SNP	ENST00000318698.2	37	c.312T>A|c.313G>T	CCDS32686.1																																																																																				PASS	0.455	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		27|28	37|38	27	37	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56277639	56277639	+	Missense_Mutation	SNP	C	C	G	rs549396092		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:56277639C>G	ENST00000225371.5	+	10	1701	c.1591C>G	c.(1591-1593)Cgt>Ggt	p.R531G		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	531					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R531G(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CAAGCTGAACCGTCAGGATGC	0.622											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ivq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1591-1593)CGT>GGT		eosinophil peroxidase preproprotein							74.0	73.0	73.0					17																	56277639		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56277639C>G	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1591C>G	17.37:g.56277639C>G	ENSP00000225371:p.Arg531Gly		OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.R531G	NM_000502	NP_000493	P11678	PERE_HUMAN			10	1677	+			531					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1591C>G	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916720	0.33815	.	.	ENSG00000121053	ENST00000225371	T	0.68624	-0.34	5.53	4.56	0.56223	.	0.660512	0.16239	N	0.223245	T	0.66886	0.2835	M	0.80982	2.52	0.30661	N	0.754343	B	0.27351	0.176	B	0.25506	0.061	T	0.65409	-0.6175	10	0.25751	T	0.34	-0.7596	12.7457	0.57280	0.0:0.9198:0.0:0.0802	.	531	P11678	PERE_HUMAN	G	531	ENSP00000225371:R531G	ENSP00000225371:R531G	R	+	1	0	EPX	53632638	0.039000	0.19947	0.890000	0.34922	0.970000	0.65996	0.872000	0.28037	1.478000	0.48253	0.561000	0.74099	CGT		PASS	0.622	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		8	61	8	61	---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	59024696	59024696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:59024696G>T	ENST00000390652.5	+	14	1235	c.1204G>T	c.(1204-1206)Gga>Tga	p.G402*	BCAS3_ENST00000589222.1_Nonsense_Mutation_p.G402*|BCAS3_ENST00000585744.1_Nonsense_Mutation_p.G173*|BCAS3_ENST00000588462.1_Nonsense_Mutation_p.G402*|BCAS3_ENST00000408905.3_Nonsense_Mutation_p.G402*|BCAS3_ENST00000407086.3_Nonsense_Mutation_p.G402*|BCAS3_ENST00000588874.1_Nonsense_Mutation_p.G173*	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.G402*(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCTTCACAGGGGAGAAACTGA	0.413																																						uc002iyv.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1204-1206)GGA>TGA		breast carcinoma amplified sequence 3 isoform 1							176.0	162.0	167.0					17																	59024696		1895	4127	6022	SO:0001587	stop_gained	54828					nucleus		g.chr17:59024696G>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1204G>T	17.37:g.59024696G>T	ENSP00000375067:p.Gly402*					BCAS3_uc010wow.1_Nonsense_Mutation_p.G189*|BCAS3_uc002iyu.3_Nonsense_Mutation_p.G402*|BCAS3_uc002iyw.3_Nonsense_Mutation_p.G398*|BCAS3_uc002iyx.1_Nonsense_Mutation_p.G217*|BCAS3_uc002iyy.3_Nonsense_Mutation_p.G173*	p.G402*	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		14	1313	+			402						Nonsense_Mutation	SNP	ENST00000390652.5	37	c.1204G>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	40	7.913706	0.98557	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0192	0.97489	0.0:0.0:1.0:0.0	.	.	.	.	X	402;402;402;402;194;207	.	ENSP00000353336:G194X	G	+	1	0	BCAS3	56379478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.463000	0.97652	2.722000	0.93159	0.591000	0.81541	GGA		PASS	0.413	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		81	92	81	92	---	---	---	---
NACA2	342538	broad.mit.edu	37	17	59668336	59668336	+	Missense_Mutation	SNP	T	T	G	rs376933523		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:59668336T>G	ENST00000521764.1	-	1	227	c.206A>C	c.(205-207)cAg>cCg	p.Q69P		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	69					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q69P(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					ACTCCGACTCTGTTTTGCTTT	0.473																																						uc002izj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(205-207)CAG>CCG		nascent-polypeptide-associated complex alpha							216.0	199.0	205.0					17																	59668336		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668336T>G	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.206A>C	17.37:g.59668336T>G	ENSP00000427802:p.Gln69Pro						p.Q69P	NM_199290	NP_954984	Q9H009	NACA2_HUMAN			1	232	-	all_epithelial(1;3.12e-14)		69					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.206A>C	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132209	0.77662	.	.	ENSG00000253506	ENST00000521764	T	0.50548	0.74	0.753	0.753	0.18404	.	0.000000	0.64402	U	0.000006	T	0.59362	0.2188	M	0.76838	2.35	0.58432	D	0.999995	D	0.67145	0.996	D	0.65010	0.931	T	0.57659	-0.7773	9	.	.	.	.	5.7201	0.17982	0.0:0.0:0.0:1.0	.	69	Q9H009	NACA2_HUMAN	P	69	ENSP00000427802:Q69P	.	Q	-	2	0	NACA2	57023118	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	5.014000	0.64029	0.588000	0.29660	0.338000	0.21704	CAG		PASS	0.473	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		100	163	100	163	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60028323	60028323	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:60028323G>T	ENST00000397786.2	-	28	6230	c.6154C>A	c.(6154-6156)Cat>Aat	p.H2052N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2052					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.H2052N(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACTTCCTCATGAGGTTCTGTT	0.393																																						uc002izo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(6154-6156)CAT>AAT		mediator complex subunit 13							123.0	110.0	114.0					17																	60028323		1908	4137	6045	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60028323G>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6154C>A	17.37:g.60028323G>T	ENSP00000380888:p.His2052Asn						p.H2052N	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			28	6231	-			2052					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.6154C>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855477	0.91355	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82344	-1.6	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	M	0.63428	1.95	0.80722	D	1	D	0.59767	0.986	P	0.51974	0.686	T	0.81938	-0.0704	10	0.18276	T	0.48	-18.7631	20.5792	0.99380	0.0:0.0:1.0:0.0	.	2052	Q9UHV7	MED13_HUMAN	N	2052;2051	ENSP00000380888:H2052N	ENSP00000262436:H2051N	H	-	1	0	MED13	57383105	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.433000	0.97501	2.873000	0.98535	0.561000	0.74099	CAT		PASS	0.393	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		8	58	8	58	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60742270	60742270	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:60742270C>A	ENST00000303375.5	+	2	882	c.480C>A	c.(478-480)atC>atA	p.I160I		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	160	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.I160I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGTGGCGCATCTACGGCAGCG	0.667																																						uc002jad.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(478-480)ATC>ATA		mannose receptor, C type 2							47.0	48.0	48.0					17																	60742270		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60742270C>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.480C>A	17.37:g.60742270C>A						MRC2_uc002jac.2_Silent_p.I160I	p.I160I	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			2	882	+			160			Extracellular (Potential).|Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.480C>A	CCDS11634.1																																																																																				PASS	0.667	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			33	26	33	26	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61391859	61391859	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:61391859G>A	ENST00000424789.2	+	8	1052	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	AC037445.1_ENST00000581421.1_RNA|RP11-269G24.2_ENST00000580253.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E350K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	350					in utero embryonic development (GO:0001701)			p.E350K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGTTTTCCACGAAATAGATGC	0.463																																						uc002jal.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1048-1050)GAA>AAA		tetratricopeptide repeat, ankyrin repeat and							98.0	95.0	96.0					17																	61391859		2006	4176	6182	SO:0001583	missense	26115						binding	g.chr17:61391859G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1048G>A	17.37:g.61391859G>A	ENSP00000387593:p.Glu350Lys					TANC2_uc010wpe.1_Missense_Mutation_p.E260K	p.E350K	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			8	1071	+			350					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1048G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210255	0.95069	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.22539	1.95;1.95	5.26	5.26	0.73747	.	.	.	.	.	T	0.17662	0.0424	L	0.35542	1.07	0.80722	D	1	P;P	0.45827	0.867;0.474	B;B	0.37387	0.248;0.079	T	0.02774	-1.1112	9	0.26408	T	0.33	.	19.2398	0.93877	0.0:0.0:1.0:0.0	.	350;350	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	K	350	ENSP00000374171:E350K;ENSP00000387593:E350K	ENSP00000374171:E350K	E	+	1	0	TANC2	58745591	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.882000	0.87258	2.618000	0.88619	0.650000	0.86243	GAA		PASS	0.463	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			10	78	10	78	---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62855863	62855863	+	Silent	SNP	C	C	T	rs369882842		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:62855863C>T	ENST00000584306.1	-	11	4931	c.4401G>A	c.(4399-4401)tcG>tcA	p.S1467S	LRRC37A3_ENST00000339474.5_Silent_p.S585S|LRRC37A3_ENST00000334962.5_Silent_p.S444S|LRRC37A3_ENST00000319651.5_Silent_p.S1467S|LRRC37A3_ENST00000400877.3_Silent_p.S505S	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1467						integral component of membrane (GO:0016021)		p.S1467S(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CACCTGGGGACGAGAGCAATG	0.488													-|||	1	0.000199681	0.0	0.0	5008	,	,		19098	0.001		0.0	False		,,,				2504	0.0					uc002jey.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(4399-4401)TCG>TCA		leucine rich repeat containing 37, member A3		C		1,4405		0,1,2202	136.0	142.0	140.0		4401	-1.7	0.0	17		140	2,8594		0,2,4296	no	coding-synonymous	LRRC37A3	NM_199340.2		0,3,6498	TT,TC,CC		0.0233,0.0227,0.0231		1467/1635	62855863	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	374819					integral to membrane		g.chr17:62855863C>T	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4401G>A	17.37:g.62855863C>T						LRRC37A3_uc010wqg.1_Silent_p.S585S|LRRC37A3_uc002jex.1_Silent_p.S444S|LRRC37A3_uc010wqf.1_Silent_p.S505S|LRRC37A3_uc010dek.1_Silent_p.S473S	p.S1467S	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	4932	-			1467			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	c.4401G>A	CCDS32708.1																																																																																				PASS	0.488	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		13	180	13	180	---	---	---	---
APOH	350	broad.mit.edu	37	17	64210608	64210608	+	Nonsense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:64210608A>T	ENST00000205948.6	-	7	982	c.945T>A	c.(943-945)tgT>tgA	p.C315*		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	315	Sushi-like.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.C315*(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGCCATCTATACACTGAGCAT	0.403																																					Melanoma(155;624 1882 16869 48804 51309)	uc002jfn.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(943-945)TGT>TGA		apolipoprotein H precursor							195.0	159.0	172.0					17																	64210608		2203	4300	6503	SO:0001587	stop_gained	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64210608A>T		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.945T>A	17.37:g.64210608A>T	ENSP00000205948:p.Cys315*						p.C315*	NM_000042	NP_000033	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		7	1004	-			315			Sushi-like.		B2R9M3|Q9UCN7	Nonsense_Mutation	SNP	ENST00000205948.6	37	c.945T>A	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	a	15.37	2.813402	0.50527	.	.	ENSG00000091583	ENST00000205948	.	.	.	5.5	-0.12	0.13539	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3198	0.43758	0.4279:0.0:0.5721:0.0	.	.	.	.	X	315	.	ENSP00000205948:C315X	C	-	3	2	APOH	61641070	0.043000	0.20138	0.357000	0.25798	0.224000	0.24922	0.161000	0.16481	0.010000	0.14839	-0.256000	0.11100	TGT		PASS	0.403	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		40	65	40	65	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65083074	65083074	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:65083074C>A	ENST00000358691.5	-	32	5531	c.5365G>T	c.(5365-5367)Gac>Tac	p.D1789Y	HELZ_ENST00000580168.1_Missense_Mutation_p.D1790Y	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1789						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D1789Y(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTACTGTGGTCCTGAAGCTCT	0.458																																						uc010wqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(5368-5370)GAC>TAC		helicase with zinc finger domain							137.0	142.0	141.0					17																	65083074		2015	4177	6192	SO:0001583	missense	9931							g.chr17:65083074C>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5365G>T	17.37:g.65083074C>A	ENSP00000351524:p.Asp1789Tyr					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.D1789Y	p.D1790Y	NM_014877	NP_055692					32	5555	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5368G>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916621	0.33815	.	.	ENSG00000198265	ENST00000358691	D	0.84442	-1.85	5.7	5.7	0.88788	.	0.204155	0.49916	D	0.000126	T	0.78457	0.4286	N	0.24115	0.695	0.35073	D	0.762706	P;P	0.37955	0.612;0.612	B;B	0.33890	0.172;0.172	D	0.84431	0.0577	10	0.72032	D	0.01	-11.7621	19.8311	0.96636	0.0:1.0:0.0:0.0	.	1790;1789	B7ZLW2;P42694	.;HELZ_HUMAN	Y	1789	ENSP00000351524:D1789Y	ENSP00000351524:D1789Y	D	-	1	0	HELZ	62513536	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.373000	0.66162	2.681000	0.91329	0.650000	0.86243	GAC		PASS	0.458	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		35	83	35	83	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65163616	65163616	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:65163616C>G	ENST00000358691.5	-	14	1893	c.1727G>C	c.(1726-1728)tGt>tCt	p.C576S	HELZ_ENST00000580168.1_Missense_Mutation_p.C576S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	576						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.C576S(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAGTTCTTCACAGCATTCCCT	0.393																																						uc010wqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1726-1728)TGT>TCT		helicase with zinc finger domain							91.0	87.0	88.0					17																	65163616		1865	4100	5965	SO:0001583	missense	9931							g.chr17:65163616C>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1727G>C	17.37:g.65163616C>G	ENSP00000351524:p.Cys576Ser					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.C576S	p.C576S	NM_014877	NP_055692					14	1914	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1727G>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143648	0.37825	.	.	ENSG00000198265	ENST00000358691	D	0.83992	-1.79	5.1	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	M	0.65498	2.005	0.80722	D	1	P;P	0.42483	0.539;0.781	B;B	0.37387	0.057;0.248	T	0.83021	-0.0167	10	0.87932	D	0	-3.9184	13.9719	0.64245	0.0:0.9265:0.0:0.0735	.	576;576	B7ZLW2;P42694	.;HELZ_HUMAN	S	576	ENSP00000351524:C576S	ENSP00000351524:C576S	C	-	2	0	HELZ	62594078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.596000	0.67570	1.273000	0.44346	0.563000	0.77884	TGT		PASS	0.393	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		18	77	18	77	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67197714	67197714	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:67197714T>C	ENST00000269081.4	-	11	2011	c.1102A>G	c.(1102-1104)Ata>Gta	p.I368V	ABCA10_ENST00000432313.2_Missense_Mutation_p.I368V|ABCA10_ENST00000416101.2_Missense_Mutation_p.I368V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	368					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I368V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCAGGATTTATTTCATTCTCA	0.348																																						uc010dfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1102-1104)ATA>GTA		ATP-binding cassette, sub-family A, member 10							87.0	90.0	89.0					17																	67197714		2203	4299	6502	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67197714T>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1102A>G	17.37:g.67197714T>C	ENSP00000269081:p.Ile368Val					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron	p.I368V	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			11	1981	-	Breast(10;6.95e-12)		368					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1102A>G	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.835489	0.00579	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.86366	-2.11;-1.87;-1.66	2.78	2.78	0.32641	.	0.497022	0.14474	U	0.317395	T	0.72455	0.3462	N	0.16903	0.455	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.55490	-0.8133	10	0.12430	T	0.62	.	5.9895	0.19452	0.0:0.228:0.0:0.772	.	368	Q8WWZ4	ABCAA_HUMAN	V	368	ENSP00000269081:I368V;ENSP00000407772:I368V;ENSP00000387674:I368V	ENSP00000269081:I368V	I	-	1	0	ABCA10	64709309	0.000000	0.05858	0.233000	0.24025	0.083000	0.17756	-0.362000	0.07602	1.135000	0.42183	0.416000	0.27883	ATA		PASS	0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		33	67	33	67	---	---	---	---
USH1G	124590	broad.mit.edu	37	17	72915908	72915908	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:72915908C>A	ENST00000319642.1	-	2	1205	c.1023G>T	c.(1021-1023)gcG>gcT	p.A341A		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	341					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)	p.A341A(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GACCCCGCGGCGCTCCCACCC	0.701																																						uc002jme.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1021-1023)GCG>GCT		Usher syndrome 1G protein							38.0	47.0	44.0					17																	72915908		2201	4295	6496	SO:0001819	synonymous_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915908C>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1023G>T	17.37:g.72915908C>A						USH1G_uc010wro.1_Silent_p.A238A	p.A341A	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			2	1206	-	all_lung(278;0.172)|Lung NSC(278;0.207)		341					Q8N251	Silent	SNP	ENST00000319642.1	37	c.1023G>T	CCDS32725.1																																																																																				PASS	0.701	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		20	112	20	112	---	---	---	---
QRICH2	84074	broad.mit.edu	37	17	74288383	74288383	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:74288383G>A	ENST00000262765.5	-	4	2106	c.1927C>T	c.(1927-1929)Cgt>Tgt	p.R643C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	643	Gln-rich.							p.R643C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						accaaaccacgctgaactgca	0.532																																						uc002jrd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1927-1929)CGT>TGT		glutamine rich 2							108.0	101.0	103.0					17																	74288383		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288383G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1927C>T	17.37:g.74288383G>A	ENSP00000262765:p.Arg643Cys					QRICH2_uc010wsz.1_Missense_Mutation_p.R569C|QRICH2_uc010dgw.1_Intron	p.R643C	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	2107	-			643			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1927C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503490	0.26949	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.23348	1.91	5.11	1.72	0.24424	.	.	.	.	.	T	0.37376	0.1001	L	0.53249	1.67	0.09310	N	1	D;D	0.69078	0.997;0.99	P;P	0.53861	0.736;0.627	T	0.29088	-1.0023	9	0.52906	T	0.07	2.3782	14.3201	0.66479	0.0:0.582:0.418:0.0	.	643;643	B5MD94;Q9H0J4	.;QRIC2_HUMAN	C	643	ENSP00000262765:R643C	ENSP00000262765:R643C	R	-	1	0	QRICH2	71799978	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	-0.419000	0.07071	0.497000	0.27926	0.555000	0.69702	CGT		PASS	0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		13	28	13	28	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76451813	76451813	+	Silent	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:76451813G>C	ENST00000585328.1	-	63	10192	c.10068C>G	c.(10066-10068)gcC>gcG	p.A3356A	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Silent_p.A3347A	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3347					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.A3356A(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)			AGGACACGAAGGCAGAGATGA	0.522																																						uc010dhp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(1081-1083)GCC>GCG		SubName: Full=DNAH17 variant protein; Flags: Fragment;							89.0	68.0	75.0					17																	76451813		2203	4299	6502	SO:0001819	synonymous_variant	8632							g.chr17:76451813G>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.10068C>G	17.37:g.76451813G>C						DNAH17_uc002jvs.2_RNA	p.A361A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		8	1305	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.1083C>G																																																																																					PASS	0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	10	4	10	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76831527	76831527	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:76831527G>A	ENST00000542802.3	-	4	753	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F	USP36_ENST00000312010.6_Missense_Mutation_p.L104F|USP36_ENST00000590546.2_Missense_Mutation_p.L104F|USP36_ENST00000589424.1_Missense_Mutation_p.L104F			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	104					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.L104F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GTGGGGAAAAGCACTTTCTGC	0.572																																						uc002jvz.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|breast(1)|kidney(1)	5						c.(310-312)CTT>TTT		ubiquitin specific peptidase 36							81.0	62.0	68.0					17																	76831527		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76831527G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.310C>T	17.37:g.76831527G>A	ENSP00000441214:p.Leu104Phe					USP36_uc002jwa.1_Missense_Mutation_p.L104F|USP36_uc002jwd.1_Missense_Mutation_p.L104F	p.L104F	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		4	635	-			104					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.310C>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259306	0.80246	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.12039	2.72;2.72	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.97	D;P	0.72075	0.976;0.857	T	0.28427	-1.0044	10	0.72032	D	0.01	-28.0582	17.9532	0.89059	0.0:0.0:1.0:0.0	.	104;104	Q8IXW9;Q9P275-2	.;.	F	104	ENSP00000310590:L104F;ENSP00000441214:L104F	ENSP00000310590:L104F	L	-	1	0	USP36	74343122	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	7.756000	0.85195	2.526000	0.85167	0.561000	0.74099	CTT		PASS	0.572	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		6	19	6	19	---	---	---	---
SGSH	6448	broad.mit.edu	37	17	78185956	78185956	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:78185956G>A	ENST00000326317.6	-	7	949	c.863C>T	c.(862-864)cCg>cTg	p.P288L	SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000570923.1_3'UTR|SGSH_ENST00000534910.1_Missense_Mutation_p.P85L	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	288			P -> S (in MPS3A). {ECO:0000269|PubMed:11793481}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.P288L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCAGTGCCCGGCCAGTACAG	0.617																																						uc002jxz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(862-864)CCG>CTG		N-sulfoglucosamine sulfohydrolase precursor							70.0	57.0	62.0					17																	78185956		2203	4300	6503	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78185956G>A	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.863C>T	17.37:g.78185956G>A	ENSP00000314606:p.Pro288Leu					SGSH_uc002jya.3_Missense_Mutation_p.P85L|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR	p.P288L	NM_000199	NP_000190	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	950	-	all_neural(118;0.0952)		288		P -> S (in MPS3A).			A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.863C>T	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.930044	0.52759	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.98567	-5.0;-5.0	4.62	4.62	0.57501	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.065842	0.64402	D	0.000006	D	0.97068	0.9042	L	0.54323	1.7	0.51482	D	0.999929	P	0.41345	0.746	B	0.44044	0.439	D	0.96734	0.9541	10	0.22706	T	0.39	-37.7294	17.0355	0.86474	0.0:0.0:1.0:0.0	.	288	P51688	SPHM_HUMAN	L	288;85	ENSP00000314606:P288L;ENSP00000437778:P85L	ENSP00000314606:P288L	P	-	2	0	SGSH	75800551	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	7.531000	0.81973	2.115000	0.64714	0.557000	0.71058	CCG		PASS	0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		13	29	13	29	---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79219575	79219575	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:79219575G>A	ENST00000374759.3	-	16	3524	c.3141C>T	c.(3139-3141)tcC>tcT	p.S1047S		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1047					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S1047S(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCGGAGGTCGGAGCCAGCCT	0.672																																						uc002jzz.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(3139-3141)TCC>TCT		solute carrier family 38, member 10 isoform a							20.0	25.0	23.0					17																	79219575		2001	4126	6127	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219575G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.3141C>T	17.37:g.79219575G>A						SLC38A10_uc002jzy.1_Silent_p.S965S	p.S1047S	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3516	-	all_neural(118;0.0804)|Melanoma(429;0.242)		1047					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.3141C>T	CCDS42397.1																																																																																				PASS	0.672	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		7	47	7	47	---	---	---	---
TSPAN10	83882	broad.mit.edu	37	17	79612390	79612390	+	RNA	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:79612390G>T	ENST00000572675.1	+	0	409				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)	p.A137S(1)		ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGTGAGCCTGGCTGGCTACCT	0.677																																						uc010die.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(409-411)GCT>TCT		tetraspanin 10							29.0	38.0	35.0					17																	79612390		2024	4188	6212			83882					integral to membrane		g.chr17:79612390G>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612390G>T						TSPAN10_uc002kaw.1_Missense_Mutation_p.A137S|TSPAN10_uc010did.1_RNA	p.A137S	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	499	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		137			Helical; (Potential).		Q8N548	Missense_Mutation	SNP	ENST00000572675.1	37	c.409G>T		.	.	.	.	.	.	.	.	.	.	G	6.212	0.407191	0.11754	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.79554	-1.28	4.15	2.01	0.26516	Tetraspanin, conserved site (1);	0.600287	0.16624	N	0.206367	T	0.65344	0.2682	L	0.31120	0.905	0.21064	N	0.999794	P;B	0.37708	0.606;0.156	B;B	0.35859	0.212;0.133	T	0.51426	-0.8707	10	0.18276	T	0.48	-4.2534	8.2634	0.31799	0.0:0.1442:0.4147:0.4411	.	137;137	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	S	137	ENSP00000331620:A137S	ENSP00000331620:A137S	A	+	1	0	TSPAN10	77222795	0.976000	0.34144	0.820000	0.32676	0.202000	0.24057	0.909000	0.28558	0.345000	0.23873	0.462000	0.41574	GCT		PASS	0.677	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		11	12	11	12	---	---	---	---
WDR45B	56270	broad.mit.edu	37	17	80579613	80579613	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr17:80579613C>A	ENST00000392325.4	-	6	684	c.490G>T	c.(490-492)Ggc>Tgc	p.G164C	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	164								p.G164C(1)									TGCACATGGCCCGTGTGCGTG	0.592																																						uc002kfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)GGC>TGC		WDR45-like							67.0	54.0	59.0					17																	80579613		2203	4300	6503	SO:0001583	missense	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80579613C>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.490G>T	17.37:g.80579613C>A	ENSP00000376139:p.Gly164Cys					WDR45L_uc002kfr.2_RNA	p.G164C	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		6	685	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	164					O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.490G>T	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794464	0.90453	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.67345	-0.26	4.82	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92935	0.6367	10	0.87932	D	0	-26.0343	18.2586	0.90026	0.0:1.0:0.0:0.0	.	164	Q5MNZ6	WIPI3_HUMAN	C	164;136	ENSP00000376139:G164C	ENSP00000376139:G164C	G	-	1	0	WDR45L	78172902	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	7.298000	0.78815	2.389000	0.81357	0.563000	0.77884	GGC		PASS	0.592	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		16	12	16	12	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7016502	7016502	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:7016502C>A	ENST00000389658.3	-	21	3070	c.2977G>T	c.(2977-2979)Ggt>Tgt	p.G993C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	993	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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.G993C(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)				GTACAGCTACCATCCTGGTAG	0.512																																						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.(2977-2979)GGT>TGT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						137.0	97.0	110.0					18																	7016502		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.chr18:7016502C>A	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.2977G>T	18.37:g.7016502C>A	ENSP00000374309:p.Gly993Cys					LAMA1_uc010wzj.1_Missense_Mutation_p.G469C	p.G993C	NM_005559	NP_005550	P25391	LAMA1_HUMAN			21	3071	-		Colorectal(10;0.172)	993			Laminin EGF-like 10.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2977G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274483	0.59649	.	.	ENSG00000101680	ENST00000389658	T	0.20069	2.1	5.8	5.8	0.92144	EGF-like, laminin (4);	0.116972	0.56097	D	0.000022	T	0.46132	0.1377	M	0.72894	2.215	0.39593	D	0.969618	D	0.89917	1.0	D	0.75020	0.985	T	0.43540	-0.9385	10	0.72032	D	0.01	.	15.2193	0.73299	0.0:0.9311:0.0:0.0689	.	993	P25391	LAMA1_HUMAN	C	993	ENSP00000374309:G993C	ENSP00000374309:G993C	G	-	1	0	LAMA1	7006502	0.995000	0.38212	0.954000	0.39281	0.614000	0.37383	3.263000	0.51546	2.758000	0.94735	0.643000	0.83706	GGT		PASS	0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		23	17	23	17	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12358809	12358809	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:12358809C>A	ENST00000269143.3	-	8	1117	c.886G>T	c.(886-888)Gcc>Tcc	p.A296S		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	296					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.A296S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AAGACCTTGGCAGTGGTTTCT	0.498																																						uc002kqz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(886-888)GCC>TCC		AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)						112.0	99.0	103.0					18																	12358809		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12358809C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.886G>T	18.37:g.12358809C>A	ENSP00000269143:p.Ala296Ser						p.A296S	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			8	999	-			296					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.886G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654016	0.96724	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.57436	0.4	5.58	5.58	0.84498	Peptidase M41, FtsH (2);	0.044822	0.85682	D	0.000000	T	0.76557	0.4004	M	0.88377	2.95	0.80722	D	1	D	0.67145	0.996	P	0.62184	0.899	T	0.80995	-0.1133	10	0.72032	D	0.01	.	19.5647	0.95388	0.0:1.0:0.0:0.0	.	296	Q9Y4W6	AFG32_HUMAN	S	296;311	ENSP00000269143:A296S	ENSP00000269143:A296S	A	-	1	0	AFG3L2	12348809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.616000	0.88540	0.655000	0.94253	GCC		PASS	0.498	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		10	40	10	40	---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19995556	19995556	+	5'Flank	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:19995556G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.P740L			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.P740L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGGGCTGGGGGGAAAAATGC	0.502																																						uc002ktv.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2218-2220)CCC>CTC		cutaneous T-cell lymphoma-associated antigen 1							24.0	27.0	26.0					18																	19995556		2090	4248	6338	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995556G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995556G>A	Exception_encountered						p.P740L	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	2323	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		740			Pro-rich.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.2219C>T		.	.	.	.	.	.	.	.	.	.	G	2.279	-0.365134	0.05103	.	.	ENSG00000212710	ENST00000391403	T	0.79845	-1.31	0.185	0.185	0.15096	.	.	.	.	.	T	0.70649	0.3248	L	0.56769	1.78	0.09310	N	0.999999	B	0.30889	0.299	B	0.19666	0.026	T	0.56245	-0.8011	7	.	.	.	.	.	.	.	.	740	Q96RT6	CTGE2_HUMAN	L	740	ENSP00000375220:P740L	.	P	-	2	0	CTAGE1	18249554	0.960000	0.32886	0.002000	0.10522	0.001000	0.01503	0.993000	0.29680	0.293000	0.22520	0.298000	0.19748	CCC		PASS	0.502	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		8	9	8	9	---	---	---	---
TAF4B	6875	broad.mit.edu	37	18	23895265	23895265	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:23895265A>G	ENST00000269142.5	+	10	2903	c.1905A>G	c.(1903-1905)ttA>ttG	p.L635L	TAF4B_ENST00000578121.1_Silent_p.L640L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	635					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L635L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CCTGCATCTTAGCAACAAACT	0.343																																						uc002kvu.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(1903-1905)TTA>TTG		TAF4b RNA polymerase II, TATA box binding							74.0	70.0	71.0					18																	23895265		1870	4102	5972	SO:0001819	synonymous_variant	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23895265A>G	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1905A>G	18.37:g.23895265A>G						TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Silent_p.L640L	p.L635L	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		10	2394	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		635					Q29YA4|Q29YA5	Silent	SNP	ENST00000269142.5	37	c.1905A>G	CCDS42421.1																																																																																				PASS	0.343	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		11	31	11	31	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28604414	28604414	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:28604414G>T	ENST00000360428.4	-	6	756	c.676C>A	c.(676-678)Ccc>Acc	p.P226T	DSC3_ENST00000434452.1_Missense_Mutation_p.P226T	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	226	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.P226T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGTGGGAGGGGCAGATCTGCT	0.408																																						uc002kwj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(676-678)CCC>ACC		desmocollin 3 isoform Dsc3a preproprotein							74.0	78.0	76.0					18																	28604414		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28604414G>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.676C>A	18.37:g.28604414G>T	ENSP00000353608:p.Pro226Thr					DSC3_uc002kwi.3_Missense_Mutation_p.P226T	p.P226T	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		6	831	-			226			Cadherin 1.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.676C>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904552	0.33628	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.56611	0.45;0.46	4.9	4.02	0.46733	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73536	0.3599	M	0.87038	2.855	0.49582	D	0.999802	P;D	0.71674	0.944;0.998	P;D	0.70487	0.877;0.969	T	0.78792	-0.2065	9	0.87932	D	0	.	12.2896	0.54810	0.0831:0.0:0.9169:0.0	.	226;226	Q14574;Q14574-2	DSC3_HUMAN;.	T	226	ENSP00000353608:P226T;ENSP00000392068:P226T	ENSP00000353608:P226T	P	-	1	0	DSC3	26858412	0.998000	0.40836	0.878000	0.34440	0.020000	0.10135	2.947000	0.49058	1.417000	0.47077	0.655000	0.94253	CCC		PASS	0.408	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		26	28	26	28	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28979253	28979253	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:28979253G>A	ENST00000308128.4	+	9	1159	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A342T	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	342	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A342T(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTATGAACAAGCACCTAACAT	0.378																																						uc002kwq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(1024-1026)GCA>ACA		desmoglein 4 isoform 2 preproprotein							97.0	101.0	99.0					18																	28979253		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28979253G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1024G>A	18.37:g.28979253G>A	ENSP00000311859:p.Ala342Thr					DSG4_uc002kwr.2_Missense_Mutation_p.A342T	p.A342T	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		9	1159	+			342			Cadherin 3.|Extracellular (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1024G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.973062	0.34848	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.50001	0.76;0.76	5.43	-0.838	0.10762	Cadherin (5);Cadherin-like (1);	1.938910	0.03434	N	0.208313	T	0.29976	0.0750	N	0.13140	0.3	0.09310	N	1	B;B	0.28512	0.214;0.091	B;B	0.33121	0.098;0.158	T	0.13335	-1.0513	10	0.14656	T	0.56	.	5.186	0.15184	0.6532:0.0:0.1367:0.2102	.	342;342	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	342	ENSP00000311859:A342T;ENSP00000352785:A342T	ENSP00000311859:A342T	A	+	1	0	DSG4	27233251	0.000000	0.05858	0.182000	0.23118	0.811000	0.45836	-0.965000	0.03829	-0.301000	0.08882	0.650000	0.86243	GCA		PASS	0.378	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		21	88	21	88	---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33706432	33706432	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:33706432T>A	ENST00000590986.1	-	2	828	c.539A>T	c.(538-540)gAc>gTc	p.D180V	SLC39A6_ENST00000269187.5_Missense_Mutation_p.D180V|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	180					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.D180V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ACTAACACTGTCCTTGACATT	0.468																																						uc010dmy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(538-540)GAC>GTC		solute carrier family 39 (zinc transporter),							189.0	178.0	182.0					18																	33706432		2030	4189	6219	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706432T>A	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.539A>T	18.37:g.33706432T>A	ENSP00000465915:p.Asp180Val					SLC39A6_uc002kzj.2_Intron	p.D180V	NM_012319	NP_036451	Q13433	S39A6_HUMAN			2	829	-			180			Extracellular (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.539A>T	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.673316	0.29693	.	.	ENSG00000141424	ENST00000269187	T	0.22134	1.97	5.91	4.69	0.59074	.	0.849858	0.10730	N	0.640702	T	0.09949	0.0244	N	0.03608	-0.345	0.80722	D	1	B	0.16603	0.018	B	0.16289	0.015	T	0.20107	-1.0285	10	0.30854	T	0.27	-7.8484	8.6841	0.34227	0.1692:0.0:0.0:0.8308	.	180	Q13433	S39A6_HUMAN	V	180	ENSP00000269187:D180V	ENSP00000269187:D180V	D	-	2	0	SLC39A6	31960430	0.997000	0.39634	0.933000	0.37362	0.841000	0.47740	3.178000	0.50879	2.266000	0.75297	0.454000	0.30748	GAC		PASS	0.468	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			41	102	41	102	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42281564	42281564	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:42281564G>T	ENST00000282030.5	+	2	549	c.253G>T	c.(253-255)Ggt>Tgt	p.G85C	SETBP1_ENST00000426838.4_Missense_Mutation_p.G85C	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	85						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G85C(2)|p.G31C(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGCAGGAGATGGTTTGGAAGA	0.522									Schinzel-Giedion syndrome																													uc010dni.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(253-255)GGT>TGT		SET binding protein 1 isoform a							109.0	99.0	102.0					18																	42281564		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281564G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.253G>T	18.37:g.42281564G>T	ENSP00000282030:p.Gly85Cys					SETBP1_uc002lay.2_Missense_Mutation_p.G85C	p.G85C	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	2	549	+			85					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.253G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866441	0.72065	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.78924	-1.22	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	L	0.55481	1.735	0.46874	D	0.999233	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86917	0.2064	10	0.72032	D	0.01	.	19.8326	0.96642	0.0:0.0:1.0:0.0	.	85;85	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	C	85	ENSP00000282030:G85C	ENSP00000282030:G85C	G	+	1	0	SETBP1	40535562	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	6.343000	0.72986	2.686000	0.91538	0.591000	0.81541	GGT		PASS	0.522	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		20	26	20	26	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42281695	42281695	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:42281695G>T	ENST00000282030.5	+	2	680	c.384G>T	c.(382-384)gaG>gaT	p.E128D	SETBP1_ENST00000426838.4_Missense_Mutation_p.E128D	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	128						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E128D(2)|p.E74D(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTCCACCTGAGATCAAGATCA	0.463									Schinzel-Giedion syndrome																													uc010dni.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(382-384)GAG>GAT		SET binding protein 1 isoform a							72.0	75.0	74.0					18																	42281695		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281695G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.384G>T	18.37:g.42281695G>T	ENSP00000282030:p.Glu128Asp					SETBP1_uc002lay.2_Missense_Mutation_p.E128D	p.E128D	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	2	680	+			128					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.384G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893297	0.72524	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.71103	-0.54	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	L	0.50333	1.59	0.36739	D	0.882121	D;D	0.76494	0.997;0.999	D;D	0.77557	0.99;0.972	T	0.81274	-0.1007	10	0.36615	T	0.2	.	19.7784	0.96405	0.0:0.0:1.0:0.0	.	128;128	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	D	128	ENSP00000282030:E128D	ENSP00000282030:E128D	E	+	3	2	SETBP1	40535693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.551000	0.67274	2.658000	0.90341	0.591000	0.81541	GAG		PASS	0.463	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		10	35	10	35	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561037	44561037	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:44561037G>T	ENST00000332567.4	-	1	951	c.599C>A	c.(598-600)gCg>gAg	p.A200E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	200					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A200E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCCCTGAGCCGCGTGAGTGTG	0.692																																						uc002lcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(598-600)GCG>GAG		elongin A2							21.0	25.0	24.0					18																	44561037		2198	4292	6490	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561037G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.599C>A	18.37:g.44561037G>T	ENSP00000331302:p.Ala200Glu					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.A200E	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	952	-			200					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.599C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444586	0.43429	.	.	ENSG00000206181	ENST00000332567	T	0.08102	3.13	2.29	1.41	0.22369	.	1.972690	0.02948	N	0.141384	T	0.17195	0.0413	L	0.55481	1.735	0.09310	N	1	D	0.64830	0.994	P	0.58130	0.833	T	0.23332	-1.0191	10	0.17832	T	0.49	0.0104	4.8152	0.13363	0.181:0.0:0.819:0.0	.	200	Q8IYF1	ELOA2_HUMAN	E	200	ENSP00000331302:A200E	ENSP00000331302:A200E	A	-	2	0	TCEB3B	42815035	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.525000	0.22956	0.547000	0.28938	0.462000	0.41574	GCG		PASS	0.692	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		5	31	5	31	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47813008	47813008	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:47813008C>A	ENST00000285106.6	-	3	838	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	CXXC1_ENST00000412036.2_Splice_Site_p.G42W|CXXC1_ENST00000589940.1_Splice_Site_p.G42W|CXXC1_ENST00000587396.1_5'UTR	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	42					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.G42W(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTGTCACACCCGCTGCAGAGG	0.647																																						uc002leq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(124-126)GGG>TGG		CXXC finger 1 (PHD domain) isoform 2							125.0	110.0	115.0					18																	47813008		2203	4300	6503	SO:0001630	splice_region_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47813008C>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.123-1G>T	18.37:g.47813008C>A						CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.G42W|CXXC1_uc010doy.2_Missense_Mutation_p.G42W|CXXC1_uc002les.2_Missense_Mutation_p.G42W	p.G42W	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			3	857	-			42			PHD-type.		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.124G>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862458	0.51482	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.63744	-0.06;-0.06	3.6	2.71	0.32032	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.059235	0.64402	U	0.000003	D	0.82999	0.5159	H	0.95816	3.725	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.993;0.996	D	0.85166	0.0995	10	0.72032	D	0.01	-18.3613	10.8412	0.46718	0.0:0.8057:0.1943:0.0	.	42;42;42;42	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	W	42	ENSP00000285106:G42W;ENSP00000390475:G42W	ENSP00000285106:G42W	G	-	1	0	CXXC1	46067006	1.000000	0.71417	0.999000	0.59377	0.469000	0.32828	6.830000	0.75319	0.622000	0.30249	-0.537000	0.04273	GGG		PASS	0.647	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593	Missense_Mutation	39	37	39	37	---	---	---	---
ME2	4200	broad.mit.edu	37	18	48446850	48446850	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:48446850G>T	ENST00000321341.5	+	8	1031	c.759G>T	c.(757-759)caG>caT	p.Q253H	ME2_ENST00000382927.3_Missense_Mutation_p.Q253H	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	253					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.Q253H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CACTCATTCAGTTCGAAGACT	0.338																																						uc002ley.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)CAG>CAT		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						83.0	81.0	81.0					18																	48446850		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48446850G>T	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.759G>T	18.37:g.48446850G>T	ENSP00000321070:p.Gln253His					ME2_uc010dpd.2_Missense_Mutation_p.Q253H	p.Q253H	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	8	1015	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	253					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.759G>T	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070426	0.36566	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.47177	0.85;0.85	5.75	3.64	0.41730	Malic enzyme, N-terminal (2);	0.052358	0.85682	D	0.000000	T	0.59280	0.2182	L	0.49571	1.57	0.58432	D	0.999996	D;D	0.89917	0.974;1.0	P;D	0.97110	0.728;1.0	T	0.61282	-0.7094	10	0.87932	D	0	-13.4816	9.4223	0.38559	0.2443:0.0:0.7557:0.0	.	253;253	Q9BWL6;P23368	.;MAOM_HUMAN	H	253	ENSP00000321070:Q253H;ENSP00000372384:Q253H	ENSP00000321070:Q253H	Q	+	3	2	ME2	46700848	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	1.237000	0.32695	1.361000	0.45981	0.650000	0.86243	CAG		PASS	0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		12	31	12	31	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55024578	55024578	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:55024578C>A	ENST00000324000.3	+	3	2771	c.737C>A	c.(736-738)cCt>cAt	p.P246H		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	246					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.P246H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CTTTGGATCCCTGCATTTTTC	0.418																																						uc002lgn.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(736-738)CCT>CAT		ST8 alpha-N-acetyl-neuraminide							51.0	52.0	52.0					18																	55024578		2200	4294	6494	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024578C>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.737C>A	18.37:g.55024578C>A	ENSP00000320431:p.Pro246His						p.P246H	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	1094	+			246			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.737C>A	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100681	0.76983	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.33865	1.39	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62992	-0.6736	10	0.56958	D	0.05	-11.029	19.7585	0.96304	0.0:1.0:0.0:0.0	.	246	O43173	SIA8C_HUMAN	H	353;246	ENSP00000320431:P246H	ENSP00000320431:P246H	P	+	2	0	ST8SIA3	53175576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.466000	0.80914	2.773000	0.95371	0.655000	0.94253	CCT		PASS	0.418	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		33	34	33	34	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55027251	55027251	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:55027251C>A	ENST00000324000.3	+	4	2920	c.886C>A	c.(886-888)Cct>Act	p.P296T		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	296					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.P296T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ACATTTGTCACCTAAACGGCT	0.423																																						uc002lgn.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(886-888)CCT>ACT		ST8 alpha-N-acetyl-neuraminide							97.0	92.0	93.0					18																	55027251		2203	4300	6503	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55027251C>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.886C>A	18.37:g.55027251C>A	ENSP00000320431:p.Pro296Thr						p.P296T	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	4	1243	+			296			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.886C>A	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033824	0.75504	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.29397	1.57	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.58428	1.81	0.80722	D	1	D	0.57257	0.979	P	0.57846	0.828	T	0.08330	-1.0727	10	0.16420	T	0.52	-21.4804	20.3293	0.98710	0.0:1.0:0.0:0.0	.	296	O43173	SIA8C_HUMAN	T	403;296	ENSP00000320431:P296T	ENSP00000320431:P296T	P	+	1	0	ST8SIA3	53178249	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	7.487000	0.81328	2.906000	0.99361	0.655000	0.94253	CCT		PASS	0.423	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		20	9	20	9	---	---	---	---
NARS	4677	broad.mit.edu	37	18	55270055	55270055	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:55270055G>C	ENST00000256854.5	-	12	1827	c.1372C>G	c.(1372-1374)Ctt>Gtt	p.L458V	NARS_ENST00000423481.2_Missense_Mutation_p.L209V	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	458					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.L458V(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GATTCAGTAAGACGGGAATCC	0.428																																						uc002lgs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1372-1374)CTT>GTT		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)						85.0	75.0	78.0					18																	55270055		2203	4300	6503	SO:0001583	missense	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55270055G>C	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1372C>G	18.37:g.55270055G>C	ENSP00000256854:p.Leu458Val					NARS_uc002lgt.2_Missense_Mutation_p.L457V|NARS_uc010xea.1_Missense_Mutation_p.L209V	p.L458V	NM_004539	NP_004530	O43776	SYNC_HUMAN			12	1600	-		Colorectal(73;0.227)	458					B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	c.1372C>G	CCDS32837.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401465	0.25291	.	.	ENSG00000134440	ENST00000256854;ENST00000423481	D;D	0.84442	-1.85;-1.85	5.84	5.84	0.93424	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.83161	0.5194	N	0.21194	0.64	0.80722	D	1	B;B	0.34290	0.14;0.447	B;P	0.48921	0.364;0.595	T	0.75241	-0.3387	10	0.02654	T	1	-3.9207	19.7341	0.96195	0.0:0.0:1.0:0.0	.	209;458	B4DN60;O43776	.;SYNC_HUMAN	V	458;209	ENSP00000256854:L458V;ENSP00000407919:L209V	ENSP00000256854:L458V	L	-	1	0	NARS	53421053	1.000000	0.71417	0.882000	0.34594	0.990000	0.78478	9.360000	0.97119	2.764000	0.94973	0.655000	0.94253	CTT		PASS	0.428	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539		23	23	23	23	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	56033437	56033437	+	Silent	SNP	C	C	T	rs373128169	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:56033437C>T	ENST00000400345.3	+	21	2323	c.2040C>T	c.(2038-2040)taC>taT	p.Y680Y	NEDD4L_ENST00000382850.4_Silent_p.Y660Y|NEDD4L_ENST00000357895.5_Silent_p.Y672Y|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_Silent_p.Y539Y|NEDD4L_ENST00000356462.6_Silent_p.Y616Y|NEDD4L_ENST00000586263.1_Silent_p.Y652Y|NEDD4L_ENST00000456986.1_Silent_p.Y559Y|NEDD4L_ENST00000456173.2_Silent_p.Y539Y|NEDD4L_ENST00000256830.9_Silent_p.Y576Y|NEDD4L_ENST00000256832.7_Silent_p.Y540Y|NEDD4L_ENST00000431212.2_Silent_p.Y559Y	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	680	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.Y680Y(1)|p.Y660Y(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACCCCTACTACGGCCTCTTTG	0.458													C|||	4	0.000798722	0.0023	0.0	5008	,	,		18739	0.0		0.0	False		,,,				2504	0.001					uc002lgy.2																			2	Substitution - coding silent(2)		lung(2)	lung(4)	4						c.(2038-2040)TAC>TAT		neural precursor cell expressed, developmentally		C	,,,,,,,,	1,3729		0,1,1864	85.0	75.0	78.0		1677,1677,1677,2040,2016,1956,1617,1617,1980	-8.5	0.5	18		78	0,8208		0,0,4104	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEDD4L	NM_001144964.1,NM_001144965.1,NM_001144966.2,NM_001144967.2,NM_001144968.1,NM_001144969.1,NM_001144970.2,NM_001144971.1,NM_015277.5	,,,,,,,,	0,1,5968	TT,TC,CC		0.0,0.0268,0.0084	,,,,,,,,	559/855,559/855,559/855,680/976,672/968,652/948,539/835,539/835,660/956	56033437	1,11937	1865	4104	5969	SO:0001819	synonymous_variant	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56033437C>T	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2040C>T	18.37:g.56033437C>T						NEDD4L_uc002lgz.2_Silent_p.Y616Y|NEDD4L_uc002lgx.2_Silent_p.Y660Y|NEDD4L_uc010xee.1_Silent_p.Y559Y|NEDD4L_uc002lhc.2_Silent_p.Y672Y|NEDD4L_uc002lhd.2_Silent_p.Y559Y|NEDD4L_uc002lhb.2_Silent_p.Y539Y|NEDD4L_uc002lhe.2_Silent_p.Y652Y|NEDD4L_uc002lhf.2_Silent_p.Y539Y|NEDD4L_uc002lhg.2_Silent_p.Y559Y|NEDD4L_uc002lhh.2_Silent_p.Y455Y|NEDD4L_uc010dpn.2_Translation_Start_Site	p.Y680Y	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			21	2314	+			680			HECT.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	ENST00000400345.3	37	c.2040C>T	CCDS45872.1																																																																																				PASS	0.458	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			5	7	5	7	---	---	---	---
CCBE1	147372	broad.mit.edu	37	18	57103262	57103262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:57103262C>A	ENST00000439986.4	-	11	1136	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*	CCBE1_ENST00000398179.2_Nonsense_Mutation_p.E96*	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	367					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.E367*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AAAGGGAACTCCTCTGCTGAA	0.517																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1099-1101)GAG>TAG		collagen and calcium binding EGF domains 1							149.0	151.0	150.0					18																	57103262		2203	4300	6503	SO:0001587	stop_gained	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57103262C>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.1099G>T	18.37:g.57103262C>A	ENSP00000404464:p.Glu367*					CCBE1_uc010dpq.2_Nonsense_Mutation_p.E96*|CCBE1_uc002lia.2_Nonsense_Mutation_p.E220*	p.E367*	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			11	1169	-		Colorectal(73;0.175)	367					Q6MZX5|Q86SS2|Q8TF19	Nonsense_Mutation	SNP	ENST00000439986.4	37	c.1099G>T	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	40	7.958038	0.98583	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	.	.	.	5.8	5.8	0.92144	.	0.143817	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-25.9691	18.8345	0.92155	0.0:1.0:0.0:0.0	.	.	.	.	X	367;96	.	ENSP00000381241:E96X	E	-	1	0	CCBE1	55254242	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.415000	0.66411	2.735000	0.93741	0.655000	0.94253	GAG		PASS	0.517	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		66	59	66	59	---	---	---	---
SERPINB12	89777	broad.mit.edu	37	18	61232760	61232760	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:61232760T>C	ENST00000269491.1	+	6	728	c.728T>C	c.(727-729)cTg>cCg	p.L243P	SERPINB12_ENST00000382768.1_Missense_Mutation_p.L263P	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	243					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L243P(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GCACAGATCCTGGAAATGAGG	0.453																																						uc010xen.1																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)CTG>CCG		serine (or cysteine) proteinase inhibitor, clade							160.0	140.0	147.0					18																	61232760		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61232760T>C	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.728T>C	18.37:g.61232760T>C	ENSP00000269491:p.Leu243Pro					SERPINB12_uc010xeo.1_Missense_Mutation_p.L263P	p.L243P	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			6	728	+			243					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.728T>C	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277441	0.59758	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.86769	-2.17;-2.17	5.59	5.59	0.84812	Serpin domain (3);	0.000000	0.48767	D	0.000166	D	0.96306	0.8795	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98006	1.0363	10	0.87932	D	0	.	16.0663	0.80878	0.0:0.0:0.0:1.0	.	263;243	Q3SYB4;Q96P63	.;SPB12_HUMAN	P	243;263	ENSP00000269491:L243P;ENSP00000372218:L263P	ENSP00000269491:L243P	L	+	2	0	SERPINB12	59383740	0.994000	0.37717	0.973000	0.42090	0.195000	0.23768	7.899000	0.87370	2.254000	0.74563	0.528000	0.53228	CTG		PASS	0.453	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		12	47	12	47	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63525062	63525062	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:63525062G>C	ENST00000397968.2	+	8	1672	c.1246G>C	c.(1246-1248)Gac>Cac	p.D416H	CDH7_ENST00000536984.2_Missense_Mutation_p.D416H|CDH7_ENST00000323011.3_Missense_Mutation_p.D416H	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	416	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D416H(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTACTCAATTGACAGAAACAC	0.353																																						uc002ljz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1246-1248)GAC>CAC		cadherin 7, type 2 preproprotein							124.0	115.0	118.0					18																	63525062		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63525062G>C	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1246G>C	18.37:g.63525062G>C	ENSP00000381058:p.Asp416His					CDH7_uc002lka.2_Missense_Mutation_p.D416H|CDH7_uc002lkb.2_Missense_Mutation_p.D416H	p.D416H	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			8	1571	+		Esophageal squamous(42;0.129)	416			Extracellular (Potential).|Cadherin 4.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1246G>C	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268740	0.80469	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.51817	0.69;0.69;0.69	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.053262	0.64402	D	0.000001	T	0.68348	0.2991	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	T	0.72276	-0.4341	10	0.62326	D	0.03	.	17.5714	0.87935	0.0:0.0:1.0:0.0	.	416;416	F5H5X9;Q9ULB5	.;CADH7_HUMAN	H	416	ENSP00000319166:D416H;ENSP00000443030:D416H;ENSP00000381058:D416H	ENSP00000319166:D416H	D	+	1	0	CDH7	61676042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.593000	0.82686	2.459000	0.83118	0.555000	0.69702	GAC		PASS	0.353	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		29	65	29	65	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70526277	70526277	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:70526277C>A	ENST00000327305.6	-	4	910	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	NETO1_ENST00000583169.1_Missense_Mutation_p.D85Y|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.D84Y|NETO1_ENST00000397929.1_Missense_Mutation_p.D84Y	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	85	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.D84Y(1)|p.D85Y(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TACTTTTCATCAAAGTAAAGT	0.383																																						uc002lkw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(253-255)GAT>TAT		neuropilin- and tolloid-like protein 1 isoform 3							67.0	66.0	66.0					18																	70526277		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526277C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.253G>T	18.37:g.70526277C>A	ENSP00000313088:p.Asp85Tyr					NETO1_uc002lkx.1_Missense_Mutation_p.D84Y|NETO1_uc002lky.1_Missense_Mutation_p.D85Y|NETO1_uc002lkz.2_Missense_Mutation_p.D84Y	p.D85Y	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	537	-		Esophageal squamous(42;0.129)	85			CUB 1.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.253G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800899	0.90538	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.18810	2.19;2.19;2.19	5.35	5.35	0.76521	CUB (5);	0.000000	0.64402	D	0.000008	T	0.54013	0.1832	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.993	D;D;D	0.70016	0.967;0.943;0.956	T	0.61496	-0.7051	10	0.87932	D	0	-0.2424	19.438	0.94806	0.0:1.0:0.0:0.0	.	84;84;85	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	Y	85;84;84	ENSP00000313088:D85Y;ENSP00000299430:D84Y;ENSP00000381024:D84Y	ENSP00000299430:D84Y	D	-	1	0	NETO1	68677257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.724000	0.84798	2.672000	0.90937	0.655000	0.94253	GAT		PASS	0.383	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		15	43	15	43	---	---	---	---
FBXO15	201456	broad.mit.edu	37	18	71740911	71740911	+	Missense_Mutation	SNP	A	A	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:71740911A>C	ENST00000419743.2	-	10	1397	c.1318T>G	c.(1318-1320)Tgt>Ggt	p.C440G	FBXO15_ENST00000269500.5_Missense_Mutation_p.C364G|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	440						SCF ubiquitin ligase complex (GO:0019005)		p.C440G(1)|p.C364G(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GAACTGAAACACCAAAAGGGT	0.478																																						uc002lle.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1090-1092)TGT>GGT		F-box protein 15 isoform 1							182.0	169.0	174.0					18																	71740911		2203	4300	6503	SO:0001583	missense	201456							g.chr18:71740911A>C	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1318T>G	18.37:g.71740911A>C	ENSP00000393154:p.Cys440Gly					FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.C440G	p.C364G	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	10	1426	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	364					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.1090T>G	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	a	20.7	4.027970	0.75390	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.45668	0.89;0.89	5.9	5.9	0.94986	.	0.043137	0.85682	D	0.000000	T	0.63721	0.2535	M	0.72894	2.215	0.51233	D	0.999911	D;D	0.76494	0.999;0.999	D;D	0.67231	0.95;0.933	T	0.66901	-0.5806	10	0.72032	D	0.01	-7.8385	16.3313	0.83015	1.0:0.0:0.0:0.0	.	440;364	B3KST3;Q8NCQ5	.;FBX15_HUMAN	G	364;440	ENSP00000269500:C364G;ENSP00000393154:C440G	ENSP00000269500:C364G	C	-	1	0	FBXO15	69891891	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.684000	0.74538	2.266000	0.75297	0.529000	0.55759	TGT		PASS	0.478	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		59	62	59	62	---	---	---	---
CNDP1	84735	broad.mit.edu	37	18	72251777	72251777	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:72251777A>T	ENST00000358821.3	+	12	1731	c.1503A>T	c.(1501-1503)ttA>ttT	p.L501F	CNDP1_ENST00000582365.1_Missense_Mutation_p.L458F	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	501						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.L501F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CCTTTTTCTTAGAGATGGCCC	0.403																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1501-1503)TTA>TTT		carnosinase 1 precursor							119.0	116.0	117.0					18																	72251777		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72251777A>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1503A>T	18.37:g.72251777A>T	ENSP00000351682:p.Leu501Phe					CNDP1_uc002lls.2_Missense_Mutation_p.L304F	p.L501F	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	12	1714	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	501					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1503A>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	3.593	-0.083226	0.07141	.	.	ENSG00000150656	ENST00000358821	T	0.08720	3.06	4.59	-0.482	0.12078	.	0.334600	0.29451	N	0.012111	T	0.05868	0.0153	L	0.45137	1.4	0.50313	D	0.999868	B	0.10296	0.003	B	0.09377	0.004	T	0.35674	-0.9779	10	0.22109	T	0.4	-2.9049	5.3156	0.15854	0.2587:0.0:0.5741:0.1672	.	501	Q96KN2	CNDP1_HUMAN	F	501	ENSP00000351682:L501F	ENSP00000351682:L501F	L	+	3	2	CNDP1	70402757	0.997000	0.39634	0.998000	0.56505	0.200000	0.23975	0.300000	0.19156	0.131000	0.18576	-0.456000	0.05471	TTA		PASS	0.403	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		29	25	29	25	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72345798	72345798	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:72345798G>A	ENST00000299687.5	+	1	2823	c.2823G>A	c.(2821-2823)atG>atA	p.M941I	ZNF407_ENST00000577538.1_Missense_Mutation_p.M941I|ZNF407_ENST00000309902.6_Missense_Mutation_p.M941I|ZNF407_ENST00000582337.1_Missense_Mutation_p.M941I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	941					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.M941I(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGTGACCATGTCAGATGAAC	0.438																																						uc002llw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2821-2823)ATG>ATA		zinc finger protein 407 isoform 1							55.0	55.0	55.0					18																	72345798		1917	4123	6040	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345798G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2823G>A	18.37:g.72345798G>A	ENSP00000299687:p.Met941Ile					ZNF407_uc010xfc.1_Missense_Mutation_p.M941I|ZNF407_uc010dqu.1_Missense_Mutation_p.M941I|ZNF407_uc002llu.2_Missense_Mutation_p.M940I	p.M941I	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2880	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	941					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.2823G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	0.572	-0.840569	0.02692	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.08720	3.06;3.5	5.71	0.265	0.15612	.	1.861150	0.02867	N	0.131030	T	0.04003	0.0112	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.35549	-0.9784	10	0.38643	T	0.18	.	3.1875	0.06606	0.1457:0.0738:0.3291:0.4514	.	941;941;941	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	I	941	ENSP00000299687:M941I;ENSP00000310359:M941I	ENSP00000299687:M941I	M	+	3	0	ZNF407	70474786	0.000000	0.05858	0.008000	0.14137	0.024000	0.10985	-0.436000	0.06922	0.123000	0.18342	-0.379000	0.06801	ATG		PASS	0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		4	24	4	24	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753817	76753817	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:76753817G>T	ENST00000537592.2	+	2	1826	c.1826G>T	c.(1825-1827)gGg>gTg	p.G609V	SALL3_ENST00000575389.2_Missense_Mutation_p.G609V|SALL3_ENST00000536229.3_Missense_Mutation_p.G476V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	609					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.G609V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCAGGGCCGGGGACGCTCCC	0.761																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1825-1827)GGG>GTG		sal-like 3							4.0	5.0	5.0					18																	76753817		1835	3716	5551	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753817G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1826G>T	18.37:g.76753817G>T	ENSP00000441823:p.Gly609Val					SALL3_uc010dra.2_Missense_Mutation_p.G216V	p.G609V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1826	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	609					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1826G>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	6.575	0.474413	0.12521	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10005	2.92	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000021	T	0.35770	0.0943	M	0.79123	2.44	0.80722	D	1	B;D	0.76494	0.203;0.999	B;D	0.68192	0.064;0.956	T	0.09228	-1.0684	10	0.59425	D	0.04	-39.7767	19.1283	0.93394	0.0:0.0:1.0:0.0	.	341;609	F5GXY4;Q9BXA9	.;SALL3_HUMAN	V	609;609;341	ENSP00000441823:G609V	ENSP00000299466:G609V	G	+	2	0	SALL3	74854805	1.000000	0.71417	0.764000	0.31436	0.065000	0.16274	4.011000	0.57124	2.584000	0.87258	0.563000	0.77884	GGG		PASS	0.761	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	5	3	5	---	---	---	---
CTDP1	9150	broad.mit.edu	37	18	77477825	77477825	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr18:77477825G>A	ENST00000299543.7	+	10	2373	c.2226G>A	c.(2224-2226)gcG>gcA	p.A742A	CTDP1_ENST00000075430.7_Silent_p.A742A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	742					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.A742A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACAGCCCTGCGGCCTTTCCCG	0.667																																						uc002lnh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2224-2226)GCG>GCA		CTD (carboxy-terminal domain, RNA polymerase II,							37.0	43.0	41.0					18																	77477825		2203	4300	6503	SO:0001819	synonymous_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77477825G>A	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2226G>A	18.37:g.77477825G>A						CTDP1_uc002lni.1_Silent_p.A742A|CTDP1_uc010drd.1_Silent_p.A742A	p.A742A	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	10	2373	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	742					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	c.2226G>A	CCDS12017.1																																																																																				PASS	0.667	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		15	47	15	47	---	---	---	---
RNF126	55658	broad.mit.edu	37	19	652863	652863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:652863C>A	ENST00000292363.5	-	2	252	c.97G>T	c.(97-99)Gag>Tag	p.E33*		NM_194460.2	NP_919442.1			ring finger protein 126									p.E33*(1)		lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACCAGACTCGCATCTTGGA	0.592																																						uc010drs.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(97-99)GAG>TAG		ring finger protein 126							44.0	42.0	43.0					19																	652863		2203	4300	6503	SO:0001587	stop_gained	55658						protein binding|zinc ion binding	g.chr19:652863C>A	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.97G>T	19.37:g.652863C>A	ENSP00000292363:p.Glu33*					RNF126_uc002lpi.2_5'Flank	p.E33*	NM_194460	NP_919442	Q9BV68	RN126_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	203	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	33						Nonsense_Mutation	SNP	ENST00000292363.5	37	c.97G>T	CCDS12039.1	.	.	.	.	.	.	.	.	.	.	C	37	6.279738	0.97435	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	.	.	.	3.95	3.95	0.45737	.	0.074396	0.51477	U	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	15.3695	0.74551	0.0:1.0:0.0:0.0	.	.	.	.	X	33	.	ENSP00000292363:E33X	E	-	1	0	RNF126	603863	1.000000	0.71417	0.929000	0.37066	0.972000	0.66771	7.267000	0.78462	1.906000	0.55180	0.561000	0.74099	GAG		PASS	0.592	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		8	2	8	2	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2191145	2191145	+	Silent	SNP	C	C	G	rs201065643		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:2191145C>G	ENST00000398665.3	+	5	435	c.399C>G	c.(397-399)ccC>ccG	p.P133P		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	133	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.P133P(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCTCCCCCGAGGTGTACG	0.602																																						uc002lvb.3																			2	Substitution - coding silent(2)		lung(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(397-399)CCC>CCG		DOT1-like, histone H3 methyltransferase							95.0	105.0	102.0					19																	2191145		2082	4214	6296	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2191145C>G	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.399C>G	19.37:g.2191145C>G							p.P133P	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	435	+		Hepatocellular(1079;0.137)	133					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.399C>G	CCDS42460.1																																																																																				PASS	0.602	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		3	33	3	33	---	---	---	---
PNPLA6	10908	broad.mit.edu	37	19	7618810	7618810	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:7618810C>A	ENST00000221249.6	+	22	2627	c.2196C>A	c.(2194-2196)agC>agA	p.S732R	PNPLA6_ENST00000600737.1_Missense_Mutation_p.S770R|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S780R|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S705R|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S732R	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	771					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.S732R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCCAGCCAGCAACCTGGCAA	0.607																																						uc010xjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2338-2340)AGC>AGA		neuropathy target esterase isoform b							73.0	60.0	64.0					19																	7618810		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7618810C>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2196C>A	19.37:g.7618810C>A	ENSP00000221249:p.Ser732Arg					PNPLA6_uc002mgq.1_Missense_Mutation_p.S732R|PNPLA6_uc010xjp.1_Missense_Mutation_p.S705R|PNPLA6_uc002mgr.1_Missense_Mutation_p.S732R|PNPLA6_uc002mgs.2_Missense_Mutation_p.S770R|PNPLA6_uc002mgt.1_5'Flank	p.S780R	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			21	2535	+			771			Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.2340C>A	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672110	0.47781	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.04360	3.64;3.65;3.64;3.64	5.01	2.51	0.30379	.	0.097141	0.64402	D	0.000001	T	0.11793	0.0287	M	0.75447	2.3	0.41214	D	0.986461	B;P;B;B	0.49253	0.255;0.921;0.372;0.243	B;P;B;B	0.56823	0.198;0.807;0.439;0.135	T	0.24905	-1.0147	10	0.15952	T	0.53	.	7.2652	0.26226	0.0:0.6986:0.0:0.3014	.	771;705;770;732	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	R	732;705;780;732	ENSP00000221249:S732R;ENSP00000443323:S705R;ENSP00000407509:S780R;ENSP00000394348:S732R	ENSP00000221249:S732R	S	+	3	2	PNPLA6	7524810	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.963000	0.29293	1.131000	0.42111	0.394000	0.25966	AGC		PASS	0.607	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		8	19	8	19	---	---	---	---
CAMSAP3	57662	broad.mit.edu	37	19	7677726	7677726	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:7677726C>T	ENST00000160298.4	+	11	2448	c.2347C>T	c.(2347-2349)Cac>Tac	p.H783Y	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.H810Y	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	783	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.H810Y(2)|p.H783Y(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGCCCGAAACACACGCGGCC	0.741																																						uc002mgv.3																			3	Substitution - Missense(3)		lung(3)	pancreas(1)	1						c.(2347-2349)CAC>TAC		NEZHA isoform 2							7.0	9.0	8.0					19																	7677726		1840	3971	5811	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677726C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2347C>T	19.37:g.7677726C>T	ENSP00000160298:p.His783Tyr					KIAA1543_uc002mgu.3_Missense_Mutation_p.H810Y|KIAA1543_uc002mgw.2_5'Flank	p.H783Y	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			11	2448	+			783			Pro-rich.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.2347C>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	11.51	1.659104	0.29515	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.15487	2.42;2.42	5.21	5.21	0.72293	.	0.511045	0.21438	N	0.074523	T	0.25717	0.0626	L	0.50333	1.59	0.09310	N	1	D;D	0.60575	0.988;0.981	P;P	0.52957	0.592;0.714	T	0.08597	-1.0714	10	0.33141	T	0.24	-19.5619	12.6068	0.56527	0.1661:0.8338:0.0:0.0	.	783;810	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	Y	810;783	ENSP00000416797:H810Y;ENSP00000160298:H783Y	ENSP00000160298:H783Y	H	+	1	0	KIAA1543	7583726	0.998000	0.40836	0.143000	0.22291	0.297000	0.27493	4.505000	0.60421	2.436000	0.82500	0.551000	0.68910	CAC		PASS	0.741	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		4	4	4	4	---	---	---	---
MCEMP1	199675	broad.mit.edu	37	19	7743012	7743012	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:7743012C>A	ENST00000333598.3	+	3	661	c.207C>A	c.(205-207)ccC>ccA	p.P69P	TRAPPC5_ENST00000317378.5_5'Flank|C19orf59_ENST00000597445.1_Silent_p.P26P|TRAPPC5_ENST00000426877.2_5'Flank|CTD-3214H19.16_ENST00000597959.1_5'Flank|TRAPPC5_ENST00000596148.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		69						integral component of membrane (GO:0016021)		p.P69P(1)		endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GCAGGCCGCCCTCAGACTCCA	0.592											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mhh.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(205-207)CCC>CCA		mast cell-expressed membrane protein 1							143.0	139.0	140.0					19																	7743012		2203	4300	6503	SO:0001819	synonymous_variant	199675					integral to membrane		g.chr19:7743012C>A																												ENST00000333598.3:c.207C>A	19.37:g.7743012C>A			OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	p.P69P	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN			3	232	+			69			Cytoplasmic (Potential).		Q8IX20	Silent	SNP	ENST00000333598.3	37	c.207C>A	CCDS12183.1																																																																																				PASS	0.592	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1			66	33	66	33	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8966791	8966791	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:8966791C>A	ENST00000397910.4	-	81	43365	c.43162G>T	c.(43162-43164)Ggg>Tgg	p.G14388W	MUC16_ENST00000380951.5_Missense_Mutation_p.G1029W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14484				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G14388R(1)|p.G14388W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTCCACCCCGGTGTGGTGC	0.517																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(43162-43164)GGG>TGG		mucin 16							29.0	31.0	31.0					19																	8966791		1938	4123	6061	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8966791C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43162G>T	19.37:g.8966791C>A	ENSP00000381008:p.Gly14388Trp					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G1188W|MUC16_uc010xki.1_RNA	p.G14388W	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			81	43366	-			14484	Missing (in Ref. 3; AAK74120).		SEA 16.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43162G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.893	0.732745	0.15507	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.39406	1.08;1.08	4.22	0.809	0.18725	SEA (2);	.	.	.	.	T	0.59972	0.2233	M	0.81942	2.565	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64428	-0.6410	8	0.87932	D	0	.	5.8511	0.18694	0.0:0.6288:0.0:0.3712	.	22033;14388	Q8WXI7;B5ME49	MUC16_HUMAN;.	W	14388;1029	ENSP00000381008:G14388W;ENSP00000370338:G1029W	ENSP00000370338:G1029W	G	-	1	0	MUC16	8827791	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.699000	0.25586	0.140000	0.18849	-0.141000	0.14075	GGG		PASS	0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	2	3	2	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9060167	9060167	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:9060167G>A	ENST00000397910.4	-	3	27482	c.27279C>T	c.(27277-27279)acC>acT	p.T9093T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9095	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T9093T(1)|p.T4726T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAAGGTAAGGGTACCCCTTG	0.473																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27277-27279)ACC>ACT		mucin 16							173.0	160.0	164.0					19																	9060167		1909	4133	6042	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060167G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27279C>T	19.37:g.9060167G>A							p.T9093T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27483	-			9095			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.27279C>T	CCDS54212.1																																																																																				PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		50	15	50	15	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091069	9091069	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:9091069C>A	ENST00000397910.4	-	1	949	c.746G>T	c.(745-747)aGa>aTa	p.R249I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	249	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R249I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTTCACCTCTGGAATTTGG	0.473																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(745-747)AGA>ATA		mucin 16							122.0	121.0	121.0					19																	9091069		1910	4137	6047	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091069C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.746G>T	19.37:g.9091069C>A	ENSP00000381008:p.Arg249Ile						p.R249I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	950	-			249			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.746G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.811	-0.247082	0.05867	.	.	ENSG00000181143	ENST00000397910	T	0.02916	4.11	1.49	-2.35	0.06684	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	D	0.53462	0.96	B	0.38156	0.266	T	0.47861	-0.9084	8	0.87932	D	0	.	5.1733	0.15122	0.0:0.4333:0.0:0.5667	.	249	B5ME49	.	I	249	ENSP00000381008:R249I	ENSP00000381008:R249I	R	-	2	0	MUC16	8952069	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.369000	0.02578	-0.651000	0.05415	0.313000	0.20887	AGA		PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	7	17	7	---	---	---	---
MRPL4	51073	broad.mit.edu	37	19	10370337	10370337	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:10370337A>T	ENST00000253099.6	+	9	1071	c.784A>T	c.(784-786)Acg>Tcg	p.T262S	CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000393733.2_3'UTR|MRPL4_ENST00000307422.5_Missense_Mutation_p.T262S	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	262					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T262S(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GCTGGTCCTGACGCTGCCCAC	0.687																																						uc002mnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(784-786)ACG>TCG		mitochondrial ribosomal protein L4 isoform a							61.0	46.0	51.0					19																	10370337		2203	4300	6503	SO:0001583	missense	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10370337A>T	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.784A>T	19.37:g.10370337A>T	ENSP00000253099:p.Thr262Ser					MRPL4_uc002mnn.2_Missense_Mutation_p.T262S|MRPL4_uc002mno.2_3'UTR	p.T262S	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	10	938	+		Renal(1328;0.0112)	262					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	ENST00000253099.6	37	c.784A>T	CCDS12230.1	.	.	.	.	.	.	.	.	.	.	a	21.0	4.078043	0.76528	.	.	ENSG00000105364	ENST00000253099;ENST00000307422	.	.	.	5.1	5.1	0.69264	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	L	0.53729	1.69	0.58432	D	0.999999	P	0.41393	0.748	P	0.57283	0.817	T	0.69610	-0.5099	9	0.36615	T	0.2	-33.6811	12.8384	0.57786	1.0:0.0:0.0:0.0	.	262	Q9BYD3	RM04_HUMAN	S	262	.	ENSP00000253099:T262S	T	+	1	0	MRPL4	10231337	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	8.407000	0.90218	1.917000	0.55516	0.449000	0.29647	ACG		PASS	0.687	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			10	6	10	6	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10600417	10600417	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:10600417C>A	ENST00000171111.5	-	4	1985	c.1438G>T	c.(1438-1440)Ggg>Tgg	p.G480W	KEAP1_ENST00000393623.2_Missense_Mutation_p.G480W|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	480					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.G480W(2)		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)	CGGTTTGTCCCGTCAAAGCCC	0.582																																						uc002moq.1																			2	Substitution - Missense(2)		lung(2)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1438-1440)GGG>TGG		kelch-like ECH-associated protein 1							90.0	72.0	78.0					19																	10600417		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600417C>A	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.1438G>T	19.37:g.10600417C>A	ENSP00000171111:p.Gly480Trp					KEAP1_uc002mop.1_Missense_Mutation_p.G198W|KEAP1_uc002mor.1_Missense_Mutation_p.G480W	p.G480W	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)		4	1594	-			480			Kelch 4.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1438G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596251	0.66332	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.71579	-0.58;-0.58	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93107	0.6513	10	0.87932	D	0	.	17.5827	0.87973	0.0:1.0:0.0:0.0	.	480	Q14145	KEAP1_HUMAN	W	480	ENSP00000171111:G480W;ENSP00000377245:G480W	ENSP00000171111:G480W	G	-	1	0	KEAP1	10461417	1.000000	0.71417	0.816000	0.32577	0.173000	0.22820	7.509000	0.81698	2.752000	0.94435	0.558000	0.71614	GGG		PASS	0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		22	3	22	3	---	---	---	---
PRKCSH	5589	broad.mit.edu	37	19	11559427	11559427	+	Silent	SNP	C	C	T	rs371595741		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:11559427C>T	ENST00000589838.1	+	13	1248	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	PRKCSH_ENST00000412601.1_Silent_p.Y413Y|PRKCSH_ENST00000592741.1_Silent_p.Y423Y|PRKCSH_ENST00000252455.2_Silent_p.Y416Y|PRKCSH_ENST00000591462.1_Silent_p.Y413Y|PRKCSH_ENST00000587327.1_Silent_p.Y413Y			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	416	PRKCSH.				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.Y416Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GCCAGTGCTACGAGCTCACCA	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17546	0.0		0.0	False		,,,				2504	0.0					uc002mrt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1246-1248)TAC>TAT		protein kinase C substrate 80K-H isoform 1		C	,	1,4405	2.1+/-5.4	0,1,2202	94.0	96.0	96.0		1239,1248	-7.0	0.9	19		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRKCSH	NM_001001329.1,NM_002743.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	413/526,416/529	11559427	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:11559427C>T		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.1248C>T	19.37:g.11559427C>T						PRKCSH_uc002mru.2_Silent_p.Y413Y|PRKCSH_uc010xlz.1_Silent_p.Y423Y|PRKCSH_uc010dya.2_Silent_p.Y198Y|PRKCSH_uc010dyb.2_Silent_p.Y413Y	p.Y416Y	NM_002743	NP_002734	P14314	GLU2B_HUMAN			14	1584	+			416			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.1248C>T	CCDS32911.1																																																																																				PASS	0.622	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			36	10	36	10	---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13010343	13010343	+	Silent	SNP	G	G	T	rs200081311		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:13010343G>T	ENST00000222214.5	+	12	1516	c.1305G>T	c.(1303-1305)acG>acT	p.T435T	SYCE2_ENST00000293695.7_Intron|GCDH_ENST00000457854.1_Intron|GCDH_ENST00000591470.1_Silent_p.T435T|GCDH_ENST00000422947.2_Silent_p.T391T			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	435					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.T435T(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	AGGCGTTCACGGCCAGCAAGT	0.547																																					GBM(123;875 1636 7726 16444 26754)	uc002mvq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1303-1305)ACG>ACT		glutaryl-Coenzyme A dehydrogenase isoform a							60.0	56.0	57.0					19																	13010343		2203	4300	6503	SO:0001819	synonymous_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13010343G>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1305G>T	19.37:g.13010343G>T						GCDH_uc002mvp.2_Intron|GCDH_uc010xmt.1_Silent_p.T269T|GCDH_uc010xmu.1_Silent_p.T391T|SYCE2_uc002mvr.2_Intron	p.T435T	NM_000159	NP_000150	Q92947	GCDH_HUMAN			12	1382	+			435					A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	37	c.1305G>T	CCDS12286.1																																																																																				PASS	0.547	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			18	4	18	4	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14552023	14552023	+	Silent	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:14552023G>T	ENST00000242783.6	+	2	255	c.90G>T	c.(88-90)ggG>ggT	p.G30G	PKN1_ENST00000342216.4_Silent_p.G36G|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	30					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.G30G(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGGCCCCCGGGGTACAGCAGC	0.687																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(88-90)GGG>GGT		protein kinase N1 isoform 2							6.0	9.0	8.0					19																	14552023		1791	3894	5685	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14552023G>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.90G>T	19.37:g.14552023G>T						PKN1_uc002myq.2_Silent_p.G36G	p.G30G	NM_002741	NP_002732	Q16512	PKN1_HUMAN			2	258	+			30					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.90G>T	CCDS42513.1																																																																																				PASS	0.687	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		10	2	10	2	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17949164	17949164	+	Missense_Mutation	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:17949164T>G	ENST00000527670.1	-	10	1506	c.1477A>C	c.(1477-1479)Agc>Cgc	p.S493R	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.S493R|JAK3_ENST00000458235.1_Missense_Mutation_p.S493R			P52333	JAK3_HUMAN	Janus kinase 3	493					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S493R(2)|p.S493C(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GTGGGTGGGCTGTGACCTCTC	0.512		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		3	Substitution - Missense(3)	p.S493C(1)	lung(3)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(1477-1479)AGC>CGC		Janus kinase 3							211.0	189.0	196.0					19																	17949164		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17949164T>G	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1477A>C	19.37:g.17949164T>G	ENSP00000432511:p.Ser493Arg					JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.S493R|JAK3_uc010xpx.1_3'UTR	p.S493R	NM_000215	NP_000206	P52333	JAK3_HUMAN			11	1577	-			493					Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1477A>C	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	T	7.406	0.633726	0.14322	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.76060	-0.97;-0.97;-0.99	4.65	0.751	0.18392	Protein kinase-like domain (1);	1.204900	0.05704	N	0.594629	T	0.65668	0.2713	L	0.40543	1.245	0.09310	N	1	B;B	0.25904	0.137;0.083	B;B	0.31016	0.123;0.032	T	0.46665	-0.9175	10	0.18710	T	0.47	-5.6591	7.7695	0.28999	0.0:0.3967:0.0:0.6033	.	493;493	P52333-2;P52333	.;JAK3_HUMAN	R	493	ENSP00000391676:S493R;ENSP00000432511:S493R;ENSP00000436421:S493R	ENSP00000413248:S493R	S	-	1	0	JAK3	17810164	0.000000	0.05858	0.001000	0.08648	0.151000	0.21798	0.263000	0.18478	-0.171000	0.10797	0.260000	0.18958	AGC		PASS	0.512	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		49	58	49	58	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19115271	19115271	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:19115271G>A	ENST00000601879.1	-	7	2932	c.2635C>T	c.(2635-2637)Cct>Tct	p.P879S	SUGP2_ENST00000452918.2_Missense_Mutation_p.P879S|SUGP2_ENST00000337018.6_Missense_Mutation_p.P879S|SUGP2_ENST00000456085.2_Missense_Mutation_p.P648S|SUGP2_ENST00000600377.1_Missense_Mutation_p.P893S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	879	Asp/Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P879S(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCCCGCGGAGGGGGCTCGTCT	0.647																																						uc002nkx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2635-2637)CCT>TCT		splicing factor, arginine/serine-rich 14							49.0	50.0	49.0					19																	19115271		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19115271G>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2635C>T	19.37:g.19115271G>A	ENSP00000472286:p.Pro879Ser					SFRS14_uc002nkz.1_Missense_Mutation_p.P893S|SFRS14_uc002nla.1_Missense_Mutation_p.P879S|SFRS14_uc002nlb.2_Missense_Mutation_p.P879S|SFRS14_uc010xqk.1_Missense_Mutation_p.P648S	p.P879S	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		7	2781	-			879			Asp/Glu-rich.		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.2635C>T	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	1.464	-0.561514	0.03939	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.11063	3.05;2.95;3.05;2.81	5.26	1.3	0.21679	.	0.662303	0.14161	N	0.337343	T	0.05456	0.0144	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.42430	-0.9452	10	0.18276	T	0.48	-4.5119	3.9682	0.09441	0.2692:0.3764:0.3544:0.0	.	648;879;879	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	S	879;879;879;648	ENSP00000337926:P879S;ENSP00000332373:P879S;ENSP00000389380:P879S;ENSP00000409603:P648S	ENSP00000332373:P879S	P	-	1	0	SUGP2	18976271	0.340000	0.24792	0.039000	0.18376	0.052000	0.14988	0.622000	0.24433	0.479000	0.27511	0.563000	0.77884	CCT		PASS	0.647	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		24	27	24	27	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22271876	22271876	+	Missense_Mutation	SNP	C	C	T	rs376879531		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:22271876C>T	ENST00000594947.1	+	4	1468	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	442					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.R442W(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCTTTAACCGGTCTTCATA	0.403																																						uc010ecx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1324-1326)CGG>TGG		zinc finger protein 257		C	TRP/ARG	1,4223		0,1,2111	47.0	52.0	51.0		1324	-2.2	0.0	19		51	0,8514		0,0,4257	no	missense	ZNF257	NM_033468.2	101	0,1,6368	TT,TC,CC		0.0,0.0237,0.0079	benign	442/564	22271876	1,12737	2112	4257	6369	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271876C>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1324C>T	19.37:g.22271876C>T	ENSP00000470209:p.Arg442Trp					ZNF257_uc010ecy.2_Missense_Mutation_p.R410W	p.R442W	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1493	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	442			C2H2-type 10.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1324C>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	2.065	-0.414340	0.04766	2.37E-4	0.0	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28896	0.0717	L	0.41124	1.26	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	T	0.23547	-1.0185	8	0.23891	T	0.37	.	8.7853	0.34816	0.0:0.6723:0.3277:0.0	.	442	Q9Y2Q1	ZN257_HUMAN	W	442;414	.	ENSP00000380312:R414W	R	+	1	2	ZNF257	22063716	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.998000	0.01469	-0.555000	0.06142	-0.802000	0.03209	CGG		PASS	0.403	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			7	29	7	29	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935911	30935911	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:30935911C>T	ENST00000355537.3	+	2	1589	c.1442C>T	c.(1441-1443)cCg>cTg	p.P481L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	481					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.P481L(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)					CACGGCGTCCCGGAGGGGGAC	0.662																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1441-1443)CCG>CTG		zinc finger protein 536							35.0	39.0	37.0					19																	30935911		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935911C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1442C>T	19.37:g.30935911C>T	ENSP00000347730:p.Pro481Leu					ZNF536_uc010edd.1_Missense_Mutation_p.P481L	p.P481L	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1580	+	Esophageal squamous(110;0.0834)		481					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1442C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	3.499	-0.102132	0.06967	.	.	ENSG00000198597	ENST00000355537	T	0.09350	2.99	5.53	4.42	0.53409	.	0.463200	0.22993	N	0.053165	T	0.09598	0.0236	L	0.32530	0.975	0.42587	D	0.993234	B;B	0.26318	0.146;0.146	B;B	0.17098	0.017;0.017	T	0.23084	-1.0198	10	0.16896	T	0.51	-24.0554	17.9819	0.89144	0.0:0.869:0.1309:0.0	.	481;481	A7E228;O15090	.;ZN536_HUMAN	L	481	ENSP00000347730:P481L	ENSP00000347730:P481L	P	+	2	0	ZNF536	35627751	0.996000	0.38824	1.000000	0.80357	0.583000	0.36354	3.917000	0.56424	2.582000	0.87167	0.655000	0.94253	CCG		PASS	0.662	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		10	54	10	54	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936632	30936632	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:30936632C>A	ENST00000355537.3	+	2	2310	c.2163C>A	c.(2161-2163)tcC>tcA	p.S721S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	721					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.S721S(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)					CCTCGCCATCCTCCTCAGGTA	0.667																																						uc002nsu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2161-2163)TCC>TCA		zinc finger protein 536							16.0	18.0	17.0					19																	30936632		2054	4019	6073	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936632C>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.2163C>A	19.37:g.30936632C>A						ZNF536_uc010edd.1_Silent_p.S721S	p.S721S	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2301	+	Esophageal squamous(110;0.0834)		721					A2RU18	Silent	SNP	ENST00000355537.3	37	c.2163C>A	CCDS32984.1																																																																																				PASS	0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		9	11	9	11	---	---	---	---
FXYD5	53827	broad.mit.edu	37	19	35657195	35657195	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:35657195G>C	ENST00000342879.3	+	7	1232	c.454G>C	c.(454-456)Gtg>Ctg	p.V152L	FXYD5_ENST00000590686.1_Missense_Mutation_p.V152L|FXYD5_ENST00000423817.3_Missense_Mutation_p.V152L|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000543307.1_Missense_Mutation_p.V152L|FXYD5_ENST00000588699.1_Missense_Mutation_p.V152L|FXYD5_ENST00000541435.2_Missense_Mutation_p.V152L|FXYD5_ENST00000392219.2_Missense_Mutation_p.V152L|FXYD5_ENST00000392217.3_Missense_Mutation_p.V81L			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	152					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)	p.V152L(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGTCGCAGCTGTGCTGTTCAT	0.567																																						uc002nyg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(454-456)GTG>CTG		FXYD domain-containing ion transport regulator 5							164.0	166.0	165.0					19																	35657195		2203	4300	6503	SO:0001583	missense	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35657195G>C	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.454G>C	19.37:g.35657195G>C	ENSP00000344254:p.Val152Leu					FXYD5_uc010xsq.1_Missense_Mutation_p.V152L|FXYD5_uc002nyh.1_Missense_Mutation_p.V152L|FXYD5_uc002nyi.1_Missense_Mutation_p.V89L|FXYD5_uc002nyj.1_5'Flank	p.V152L	NM_014164	NP_054883	Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		8	540	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		152			Helical; (Potential).		B7WNZ8|Q6UW44|Q9HC34|Q9P039	Missense_Mutation	SNP	ENST00000342879.3	37	c.454G>C	CCDS12447.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176660	0.78564	.	.	ENSG00000089327	ENST00000543307;ENST00000392219;ENST00000541435;ENST00000342879;ENST00000423817;ENST00000392217	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.07	4.0	0.46444	.	0.094876	0.40302	N	0.001122	T	0.68155	0.2970	L	0.41124	1.26	0.29115	N	0.880609	D;D;D	0.76494	0.999;0.987;0.999	D;P;D	0.77557	0.982;0.905;0.99	T	0.62148	-0.6915	10	0.66056	D	0.02	-13.3544	9.684	0.40087	0.0973:0.0:0.9027:0.0	.	152;81;152	F5H4X8;Q96DB9-2;Q96DB9	.;.;FXYD5_HUMAN	L	152;152;152;152;152;81	ENSP00000444839:V152L;ENSP00000376053:V152L;ENSP00000443390:V152L;ENSP00000344254:V152L;ENSP00000393848:V152L;ENSP00000376051:V81L	ENSP00000344254:V152L	V	+	1	0	FXYD5	40349035	0.996000	0.38824	0.989000	0.46669	0.966000	0.64601	2.719000	0.47244	2.632000	0.89209	0.563000	0.77884	GTG		PASS	0.567	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		118	176	118	176	---	---	---	---
CD22	933	broad.mit.edu	37	19	35829214	35829214	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:35829214A>T	ENST00000085219.5	+	6	1195	c.1129A>T	c.(1129-1131)Aca>Tca	p.T377S	CD22_ENST00000270311.6_Missense_Mutation_p.T257S|CD22_ENST00000544992.2_Missense_Mutation_p.T377S|CD22_ENST00000594250.1_Intron|CD22_ENST00000536635.2_Intron|CD22_ENST00000341773.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.T205S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	377	Ig-like C2-type 3.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.T377S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCAGGGAAGGACAGAGGAGAA	0.512																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(1129-1131)ACA>TCA		CD22 molecule precursor	OspA lipoprotein(DB00045)						159.0	136.0	144.0					19																	35829214		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35829214A>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1129A>T	19.37:g.35829214A>T	ENSP00000085219:p.Thr377Ser					CD22_uc010xst.1_Missense_Mutation_p.T205S|CD22_uc010edu.2_Intron|CD22_uc010edv.2_Missense_Mutation_p.T377S|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	p.T377S	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1206	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		377			Extracellular (Potential).|Ig-like C2-type 3.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.1129A>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.961271	0.34565	.	.	ENSG00000012124	ENST00000085219;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.88	4.88	0.63580	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.478331	0.17767	N	0.162706	T	0.11879	0.0289	N	0.13235	0.315	0.09310	N	1	P;P;P	0.38129	0.619;0.454;0.619	B;B;B	0.40506	0.178;0.082;0.331	T	0.12863	-1.0531	10	0.02654	T	1	.	10.886	0.46968	1.0:0.0:0.0:0.0	.	205;377;377	Q32M46;F5GYU4;P20273	.;.;CD22_HUMAN	S	377;377;257;205	ENSP00000085219:T377S;ENSP00000441237:T377S;ENSP00000270311:T257S;ENSP00000403822:T205S	ENSP00000085219:T377S	T	+	1	0	CD22	40521054	0.008000	0.16893	0.002000	0.10522	0.092000	0.18411	2.302000	0.43637	1.829000	0.53265	0.482000	0.46254	ACA		PASS	0.512	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		32	44	32	44	---	---	---	---
RBM42	79171	broad.mit.edu	37	19	36122069	36122069	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:36122069G>T	ENST00000262633.4	+	3	415	c.310G>T	c.(310-312)Gct>Tct	p.A104S	RBM42_ENST00000360475.4_Missense_Mutation_p.A104S|RBM42_ENST00000588161.1_Missense_Mutation_p.A104S|RBM42_ENST00000586618.1_Missense_Mutation_p.A104S|RBM42_ENST00000589559.1_Missense_Mutation_p.A104S|RBM42_ENST00000589871.1_Missense_Mutation_p.A104S|RBM42_ENST00000592202.1_Missense_Mutation_p.A104S	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	104						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A104S(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCCGAGCAGCTGCTGCAGC	0.607																																						uc002oan.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GCT>TCT		RNA binding motif protein 42							85.0	82.0	83.0					19																	36122069		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36122069G>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.310G>T	19.37:g.36122069G>T	ENSP00000262633:p.Ala104Ser					RBM42_uc010xsx.1_Missense_Mutation_p.A104S|RBM42_uc010eef.2_Missense_Mutation_p.A104S|RBM42_uc002oao.2_Missense_Mutation_p.A104S|RBM42_uc002oap.2_Missense_Mutation_p.A104S|RBM42_uc002oaq.2_Missense_Mutation_p.A104S|RBM42_uc010eeg.2_Missense_Mutation_p.A104S	p.A104S	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	386	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		104					O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.310G>T	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905169	0.92035	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.18502	2.49;2.21	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	L	0.43152	1.355	0.53688	D	0.999979	D;D;D;D;D	0.71674	0.998;0.972;0.972;0.972;0.984	D;D;D;D;D	0.80764	0.994;0.971;0.971;0.971;0.956	T	0.04307	-1.0961	10	0.87932	D	0	-8.7216	15.3598	0.74464	0.0:0.0:1.0:0.0	.	104;104;104;104;104	B4DWT0;Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;.;RBM42_HUMAN	S	104	ENSP00000262633:A104S;ENSP00000353663:A104S	ENSP00000262633:A104S	A	+	1	0	RBM42	40813909	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.325000	0.79124	2.506000	0.84524	0.555000	0.69702	GCT		PASS	0.607	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		44	91	44	91	---	---	---	---
PRODH2	58510	broad.mit.edu	37	19	36303119	36303119	+	Missense_Mutation	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:36303119G>A	ENST00000301175.3	-	4	672	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	219					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.R219W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGGCCCCGTGACAGGTCC	0.642																																						uc002obx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(655-657)CGG>TGG		kidney and liver proline oxidase 1							56.0	60.0	58.0					19																	36303119		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303119G>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.655C>T	19.37:g.36303119G>A	ENSP00000301175:p.Arg219Trp						p.R219W	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	673	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		219						Missense_Mutation	SNP	ENST00000301175.3	37	c.655C>T	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.670657	0.29693	.	.	ENSG00000250799	ENST00000301175	T	0.27890	1.64	5.37	1.41	0.22369	.	.	.	.	.	T	0.28067	0.0692	M	0.62723	1.935	0.20489	N	0.999896	D	0.67145	0.996	B	0.43575	0.424	T	0.25328	-1.0135	9	0.72032	D	0.01	.	3.3924	0.07294	0.0926:0.1376:0.4612:0.3086	.	219	Q9UF12	PROD2_HUMAN	W	219	ENSP00000301175:R219W	ENSP00000301175:R219W	R	-	1	2	PRODH2	40994959	0.989000	0.36119	0.009000	0.14445	0.091000	0.18340	1.955000	0.40372	0.568000	0.29311	0.655000	0.94253	CGG		PASS	0.642	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		45	64	45	64	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36334412	36334412	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:36334412T>A	ENST00000378910.5	-	17	2295	c.2296A>T	c.(2296-2298)Aat>Tat	p.N766Y	NPHS1_ENST00000353632.6_Missense_Mutation_p.N766Y	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	766	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.N766Y(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGATGGGATTGGCATCGACA	0.577																																						uc002oby.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2296-2298)AAT>TAT		nephrin precursor							144.0	130.0	135.0					19																	36334412		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36334412T>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2296A>T	19.37:g.36334412T>A	ENSP00000368190:p.Asn766Tyr						p.N766Y	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	2296	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		766			Ig-like C2-type 7.|Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2296A>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188282	0.57909	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.14640	2.49;2.49	5.04	4.0	0.46444	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050503	0.85682	D	0.000000	T	0.33469	0.0864	M	0.75264	2.295	0.47698	D	0.999491	D	0.89917	1.0	D	0.97110	1.0	T	0.02378	-1.1168	10	0.46703	T	0.11	-12.0246	9.0697	0.36484	0.0:0.0:0.1855:0.8145	.	766	O60500	NPHN_HUMAN	Y	766	ENSP00000368190:N766Y;ENSP00000343634:N766Y	ENSP00000343634:N766Y	N	-	1	0	NPHS1	41026252	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.765000	0.55272	0.851000	0.35264	0.374000	0.22700	AAT		PASS	0.577	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			72	87	72	87	---	---	---	---
CLIP3	25999	broad.mit.edu	37	19	36515422	36515422	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:36515422G>T	ENST00000360535.4	-	7	1021	c.794C>A	c.(793-795)gCa>gAa	p.A265E	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.A265E	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	265					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.A265E(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TAGTGGCACTGCCTCTTCCAG	0.622																																						uc010eeq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(793-795)GCA>GAA		CAP-GLY domain containing linker protein 3							116.0	100.0	105.0					19																	36515422		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36515422G>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.794C>A	19.37:g.36515422G>T	ENSP00000353732:p.Ala265Glu					uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.A265E	p.A265E	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	1076	-	Esophageal squamous(110;0.162)		265					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.794C>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598069	0.66332	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.74002	-0.8	5.88	5.88	0.94601	Cytoskeleton-associated protein, Gly-rich domain (1);	0.050266	0.85682	D	0.000000	D	0.84710	0.5532	M	0.64404	1.975	0.58432	D	0.999991	D	0.71674	0.998	D	0.75484	0.986	D	0.84124	0.0408	10	0.51188	T	0.08	-5.4618	17.7145	0.88332	0.0:0.0:1.0:0.0	.	265	Q96DZ5	CLIP3_HUMAN	E	265;147;241	ENSP00000353732:A265E	ENSP00000353732:A265E	A	-	2	0	CLIP3	41207262	1.000000	0.71417	0.951000	0.38953	0.864000	0.49448	7.558000	0.82253	2.790000	0.95986	0.591000	0.81541	GCA		PASS	0.622	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		6	93	6	93	---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37904928	37904928	+	Missense_Mutation	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:37904928T>G	ENST00000316950.6	-	6	1189	c.632A>C	c.(631-633)gAg>gCg	p.E211A	ZNF569_ENST00000392150.2_Missense_Mutation_p.E52A|ZNF569_ENST00000392149.2_Missense_Mutation_p.E211A	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	211					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.E211A(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATAGGGCTTCTCTCCAGTATG	0.368																																						uc002ogi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(631-633)GAG>GCG		zinc finger protein 569							62.0	64.0	64.0					19																	37904928		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904928T>G	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.632A>C	19.37:g.37904928T>G	ENSP00000325018:p.Glu211Ala					ZNF569_uc002ogh.2_Missense_Mutation_p.E52A|ZNF569_uc002ogj.2_Missense_Mutation_p.E235A	p.E211A	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1190	-			211					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.632A>C	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828823	0.32329	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.27557	1.66;1.66	3.73	2.69	0.31865	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.408254	0.17960	N	0.156227	T	0.49184	0.1542	M	0.86573	2.825	0.34852	D	0.741715	P;B	0.42692	0.787;0.017	P;B	0.52454	0.699;0.106	T	0.61950	-0.6957	10	0.87932	D	0	.	7.5283	0.27668	0.0:0.113:0.0:0.887	.	52;211	Q17RR6;Q5MCW4	.;ZN569_HUMAN	A	211;52	ENSP00000325018:E211A;ENSP00000375993:E52A	ENSP00000325018:E211A	E	-	2	0	ZNF569	42596768	0.877000	0.30153	0.197000	0.23402	0.949000	0.60115	3.130000	0.50508	0.616000	0.30141	0.482000	0.46254	GAG		PASS	0.368	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		24	113	24	113	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38880956	38880956	+	Missense_Mutation	SNP	G	G	A	rs369044035		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:38880956G>A	ENST00000338502.4	+	1	117	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	GGN_ENST00000334928.6_5'Flank|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron|SPRED3_ENST00000586301.1_Missense_Mutation_p.R5Q|GGN_ENST00000591809.1_5'Flank	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	5	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)		p.R5Q(2)		central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGCGGGTCCGAGCTGTGGTG	0.657																																						uc002oim.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(13-15)CGA>CAA		sprouty-related, EVH1 domain containing 3		G	GLN/ARG,GLN/ARG	0,4284		0,0,2142	30.0	32.0	32.0		14,14	2.9	1.0	19		32	1,8505		0,1,4252	no	missense,missense	SPRED3	NM_001039616.1,NM_001042522.1	43,43	0,1,6394	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging	5/153,5/411	38880956	1,12789	2142	4253	6395	SO:0001583	missense	399473				multicellular organismal development			g.chr19:38880956G>A		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.14G>A	19.37:g.38880956G>A	ENSP00000345405:p.Arg5Gln					GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Missense_Mutation_p.R5Q	p.R5Q	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	18	+	all_cancers(60;3.4e-06)		5			WH1.		Q2MJR1	Missense_Mutation	SNP	ENST00000338502.4	37	c.14G>A	CCDS42560.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664163	0.67700	0.0	1.18E-4	ENSG00000188766	ENST00000338502;ENST00000396877	D	0.86865	-2.18	3.93	2.88	0.33553	EVH1 (1);Pleckstrin homology-type (1);	0.000000	0.64402	U	0.000004	D	0.91489	0.7313	M	0.79475	2.455	0.51233	D	0.999914	D;D	0.89917	1.0;0.993	D;P	0.66351	0.943;0.643	D	0.90840	0.4723	10	0.56958	D	0.05	-3.5508	10.1566	0.42827	0.1042:0.0:0.8958:0.0	.	5;5	Q2MJR0;Q2MJR1	SPRE3_HUMAN;.	Q	5	ENSP00000345405:R5Q	ENSP00000345405:R5Q	R	+	2	0	SPRED3	43572796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.005000	0.70716	0.945000	0.37605	0.491000	0.48974	CGA		PASS	0.657	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		10	47	10	47	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38956762	38956762	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:38956762C>A	ENST00000359596.3	+	24	2902	c.2902C>A	c.(2902-2904)Ccg>Acg	p.P968T	RYR1_ENST00000360985.3_Missense_Mutation_p.P968T|RYR1_ENST00000355481.4_Missense_Mutation_p.P968T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	968	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P968T(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAAGCCGGCTCCGCTGGACCT	0.637																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2902-2904)CCG>ACG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						22.0	25.0	24.0					19																	38956762		2200	4296	6496	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38956762C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2902C>A	19.37:g.38956762C>A	ENSP00000352608:p.Pro968Thr					RYR1_uc002oiu.2_Missense_Mutation_p.P968T	p.P968T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3032	+	all_cancers(60;7.91e-06)		968			2.|Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.2902C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547865	0.45383	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95238	-3.65;-3.65;-3.65	3.8	3.8	0.43715	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.97520	0.9188	M	0.90309	3.105	0.53688	D	0.999977	D;D	0.76494	0.971;0.999	D;D	0.81914	0.917;0.995	D	0.98588	1.0653	10	0.87932	D	0	.	15.5405	0.76039	0.0:1.0:0.0:0.0	.	968;968	P21817-2;P21817	.;RYR1_HUMAN	T	968	ENSP00000352608:P968T;ENSP00000347667:P968T;ENSP00000354254:P968T	ENSP00000347667:P968T	P	+	1	0	RYR1	43648602	1.000000	0.71417	0.515000	0.27774	0.990000	0.78478	7.412000	0.80091	1.988000	0.58038	0.444000	0.29173	CCG		PASS	0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	23	11	23	---	---	---	---
SIRT2	22933	broad.mit.edu	37	19	39374369	39374369	+	Missense_Mutation	SNP	C	C	A	rs74490433		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:39374369C>A	ENST00000249396.7	-	9	830	c.529G>T	c.(529-531)Ggg>Tgg	p.G177W	SIRT2_ENST00000358931.5_Missense_Mutation_p.G177W|SIRT2_ENST00000392081.2_Missense_Mutation_p.G140W	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	177	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.G177W(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TGTTCCAGCCCGGCTATTCGC	0.592																																						uc002ojt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)GGG>TGG		sirtuin 2 isoform 1							68.0	54.0	59.0					19																	39374369		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39374369C>A	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.529G>T	19.37:g.39374369C>A	ENSP00000249396:p.Gly177Trp					SIRT2_uc010egh.1_Missense_Mutation_p.G140W|SIRT2_uc010egi.1_Missense_Mutation_p.G140W|SIRT2_uc002ojs.1_Missense_Mutation_p.G157W|SIRT2_uc002oju.1_Missense_Mutation_p.G140W|SIRT2_uc010egj.1_Missense_Mutation_p.G140W|SIRT2_uc002ojv.1_Missense_Mutation_p.G175W	p.G177W	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		9	729	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		177			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.529G>T	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143622	0.57044	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.93452	0.7911	H	0.99464	4.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96223	0.9162	10	0.87932	D	0	-4.8445	16.4739	0.84127	0.0:1.0:0.0:0.0	.	177;140;177;157	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	W	177;140;177;162;140;140	ENSP00000249396:G177W;ENSP00000375931:G140W;ENSP00000351809:G177W;ENSP00000404309:G140W;ENSP00000385146:G140W	ENSP00000249396:G177W	G	-	1	0	SIRT2	44066209	1.000000	0.71417	0.947000	0.38551	0.007000	0.05969	6.894000	0.75655	2.507000	0.84556	0.491000	0.48974	GGG		PASS	0.592	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			26	33	26	33	---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43414792	43414792	+	Missense_Mutation	SNP	A	A	T	rs570138275		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:43414792A>T	ENST00000292125.2	-	3	690	c.646T>A	c.(646-648)Tgt>Agt	p.C216S	PSG6_ENST00000187910.2_Missense_Mutation_p.C216S|PSG6_ENST00000402603.4_Missense_Mutation_p.C216S	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	216	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.C216S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CGTATTTCACATTCATAGGGT	0.512																																						uc002ovj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(646-648)TGT>AGT		pregnancy specific beta-1-glycoprotein 6 isoform							155.0	167.0	163.0					19																	43414792		2202	4296	6498	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43414792A>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.646T>A	19.37:g.43414792A>T	ENSP00000292125:p.Cys216Ser					PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.C223S|PSG6_uc002ovi.2_Missense_Mutation_p.C217S|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.C216S|PSG6_uc002ovg.1_Missense_Mutation_p.C216S	p.C216S	NM_002782	NP_002773	Q00889	PSG6_HUMAN			3	698	-		Prostate(69;0.00899)	216			Ig-like C2-type 1.		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.646T>A	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	12.93	2.084882	0.36758	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.58210	0.35;0.35;0.35	1.64	1.64	0.23874	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73908	0.3647	M	0.92459	3.31	0.09310	N	0.999999	D;P;D	0.89917	1.0;0.931;1.0	D;P;D	0.97110	1.0;0.747;1.0	T	0.59573	-0.7429	9	0.87932	D	0	.	5.2784	0.15663	1.0:0.0:0.0:0.0	.	216;216;216	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	S	216	ENSP00000187910:C216S;ENSP00000385736:C216S;ENSP00000292125:C216S	ENSP00000187910:C216S	C	-	1	0	PSG6	48106632	0.190000	0.23276	0.107000	0.21349	0.032000	0.12392	1.194000	0.32174	0.743000	0.32719	0.163000	0.16589	TGT		PASS	0.512	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		149	18	149	18	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43585075	43585075	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:43585075C>T	ENST00000406487.1	-	2	486	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	130	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.G130R(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)				CCTCTAGTCCCATCACCTCGC	0.488																																						uc002ovi.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(388-390)GGG>AGG		SubName: Full=Putative uncharacterized protein PSG6;							116.0	113.0	114.0					19																	43585075		2201	4279	6480	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43585075C>T		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.388G>A	19.37:g.43585075C>T	ENSP00000385706:p.Gly130Arg					PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.G130R|PSG2_uc002ovq.3_Missense_Mutation_p.G130R|PSG2_uc010eiq.1_Missense_Mutation_p.G130R|PSG2_uc002ovs.3_Missense_Mutation_p.G130R|PSG2_uc002ovt.3_Missense_Mutation_p.G130R	p.G130R			Q00889	PSG6_HUMAN			2	481	-		Prostate(69;0.00899)	129			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.388G>A	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.126357	0.00342	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.01484	4.84	0.569	-1.14	0.09741	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00637	0.0021	N	0.01168	-0.975	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.19666	0.011;0.026	T	0.43310	-0.9399	8	0.15952	T	0.53	.	.	.	.	.	130;130	B5MCM8;P11465	.;PSG2_HUMAN	R	130	ENSP00000385706:G130R	ENSP00000332984:G130R	G	-	1	0	PSG2	48276915	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.172000	0.00572	-2.118000	0.00828	-1.499000	0.00960	GGG		PASS	0.488	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		5	247	5	247	---	---	---	---
PSG4	5672	broad.mit.edu	37	19	43702369	43702369	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:43702369C>A	ENST00000405312.3	-	3	726	c.489G>T	c.(487-489)gaG>gaT	p.E163D	PSG4_ENST00000244295.9_Missense_Mutation_p.E163D|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	163	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.E163D(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGATCACAGCCTCCATGGCCT	0.547																																						uc002ovy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(487-489)GAG>GAT		pregnancy specific beta-1-glycoprotein 4 isoform							148.0	166.0	160.0					19																	43702369		2128	4272	6400	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43702369C>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.489G>T	19.37:g.43702369C>A	ENSP00000384770:p.Glu163Asp					PSG6_uc010xwk.1_Missense_Mutation_p.E2D|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Intron|PSG4_uc002ovz.2_Missense_Mutation_p.E163D	p.E163D	NM_002780	NP_002771	Q00888	PSG4_HUMAN			3	591	-		Prostate(69;0.00682)	163			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.489G>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.805828	0.00606	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.12147	2.71;2.71;2.71	1.94	-3.37	0.04898	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03263	0.0095	N	0.02842	-0.48	0.09310	N	0.999998	B;B;B	0.18863	0.031;0.025;0.002	B;B;B	0.24155	0.051;0.03;0.012	T	0.37709	-0.9694	9	0.02654	T	1	.	0.6641	0.00848	0.1786:0.2406:0.3496:0.2313	.	179;163;163	C9JWP2;Q00888-2;Q00888	.;.;PSG4_HUMAN	D	163;163;179	ENSP00000244295:E163D;ENSP00000384770:E163D;ENSP00000388134:E179D	ENSP00000244295:E163D	E	-	3	2	PSG4	48394209	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.308000	0.08156	-0.854000	0.04131	0.185000	0.17295	GAG		PASS	0.547	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		127	172	127	172	---	---	---	---
IRGC	56269	broad.mit.edu	37	19	44223577	44223577	+	Nonsense_Mutation	SNP	C	C	A	rs368626038		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:44223577C>A	ENST00000244314.5	+	2	1066	c.867C>A	c.(865-867)taC>taA	p.Y289*		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	289						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.Y289*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CGGCCGCCTACGATGATGCGT	0.632																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(865-867)TAC>TAA		immunity-related GTPase family, cinema							62.0	61.0	61.0					19																	44223577		2203	4299	6502	SO:0001587	stop_gained	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223577C>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.867C>A	19.37:g.44223577C>A	ENSP00000244314:p.Tyr289*						p.Y289*	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	1014	+		Prostate(69;0.0435)	289					Q05BR8	Nonsense_Mutation	SNP	ENST00000244314.5	37	c.867C>A	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528906	0.64860	.	.	ENSG00000124449	ENST00000244314	.	.	.	4.79	1.5	0.22942	.	0.407250	0.22253	N	0.062527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6927	0.23181	0.0:0.6069:0.0:0.3931	.	.	.	.	X	289	.	ENSP00000244314:Y289X	Y	+	3	2	IRGC	48915417	0.497000	0.26067	0.995000	0.50966	0.123000	0.20343	-0.458000	0.06737	0.106000	0.17784	-0.140000	0.14226	TAC		PASS	0.632	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		56	84	56	84	---	---	---	---
C5AR1	728	broad.mit.edu	37	19	47823944	47823945	+	Missense_Mutation	DNP	GG	GG	AT	rs201031420		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:47823944_47823945GG>AT	ENST00000355085.3	+	2	932_933	c.910_911GG>AT	c.(910-912)GGc>ATc	p.G304I		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	304					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.G304V(1)|p.G304D(1)|p.G304S(1)|p.G304I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGTGGTGGCCGGCCAGGGCTTC	0.589																																						uc002pgj.1																			4	Substitution - Missense(4)		lung(4)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(910-912)GGC>AGC|c.(910-912)GGC>GTC		complement component 5 receptor 1																																				SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823944G>A|g.chr19:47823945G>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		Exception_encountered	19.37:g.47823944_47823945delinsAT	ENSP00000347197:p.Gly304Ile						p.G304S|p.G304V	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	959|960	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	304			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000355085.3	37	c.910G>A|c.911G>T	CCDS33063.1																																																																																				PASS	0.589	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		45|44	64|63	44	63	---	---	---	---
GRWD1	83743	broad.mit.edu	37	19	48953979	48953980	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:48953979_48953980GG>TT	ENST00000253237.5	+	5	972_973	c.739_740GG>TT	c.(739-741)GGc>TTc	p.G247F		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	247						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G247V(1)|p.G247F(1)|p.G247C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACCTACGGACGGCGGCTCCTGG	0.644																																						uc002pjd.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(739-741)GGC>TGC|c.(739-741)GGC>GTC		glutamate-rich WD repeat containing 1																																				SO:0001583	missense	83743					nucleolus		g.chr19:48953979G>T|g.chr19:48953980G>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		Exception_encountered	19.37:g.48953979_48953980delinsTT	ENSP00000253237:p.Gly247Phe						p.G247C|p.G247V	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	5	972|973	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	247			WD 1.		Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.739G>T|c.740G>T	CCDS12720.1																																																																																				PASS	0.644	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		25|24	43|42	24	42	---	---	---	---
PIH1D1	55011	broad.mit.edu	37	19	49950682	49950682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:49950682G>T	ENST00000262265.5	-	6	759	c.524C>A	c.(523-525)tCg>tAg	p.S175*	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.S175*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	175					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)		p.S175*(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GTTCTGCTGCGAGATGGAGCC	0.637																																						uc002pns.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(523-525)TCG>TAG		NOP17							69.0	72.0	71.0					19																	49950682		2203	4300	6503	SO:0001587	stop_gained	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49950682G>T	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.524C>A	19.37:g.49950682G>T	ENSP00000262265:p.Ser175*						p.S175*	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	6	808	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	175					B4DGN7|B4E2X7|Q9BVL0	Nonsense_Mutation	SNP	ENST00000262265.5	37	c.524C>A	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727663	0.89390	.	.	ENSG00000104872	ENST00000262265	.	.	.	4.64	4.64	0.57946	.	0.270733	0.35207	N	0.003364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3993	12.8597	0.57906	0.0:0.0:1.0:0.0	.	.	.	.	X	175	.	ENSP00000262265:S175X	S	-	2	0	PIH1D1	54642494	0.998000	0.40836	0.996000	0.52242	0.198000	0.23893	3.230000	0.51286	2.404000	0.81709	0.655000	0.94253	TCG		PASS	0.637	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		16	75	16	75	---	---	---	---
PTOV1	53635	broad.mit.edu	37	19	50361891	50361891	+	Missense_Mutation	SNP	G	G	T	rs371169661		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:50361891G>T	ENST00000601675.1	+	10	1126	c.1022G>T	c.(1021-1023)cGg>cTg	p.R341L	PTOV1_ENST00000391842.1_Missense_Mutation_p.R341L|PTOV1_ENST00000598325.1_3'UTR|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.R309L|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000600603.1_Missense_Mutation_p.R309L|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000599732.1_Missense_Mutation_p.R341L|PTOV1_ENST00000601638.1_Missense_Mutation_p.R309L			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	341	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R341L(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGCCTGTGCCGGATCATGGAC	0.667																																						uc002pqf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)CGG>CTG		prostate tumor overexpressed 1							42.0	28.0	33.0					19																	50361891		2203	4300	6503	SO:0001583	missense	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50361891G>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1022G>T	19.37:g.50361891G>T	ENSP00000472816:p.Arg341Leu					PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.R309L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.R341L	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	10	1192	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	341			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	c.1022G>T	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959630	0.53400	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.44	3.44	0.39384	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	L	0.53249	1.67	0.47153	D	0.999337	D;D	0.76494	0.997;0.999	D;D	0.87578	0.998;0.994	T	0.73116	-0.4084	9	0.72032	D	0.01	-42.0979	13.1875	0.59691	0.0:0.0:1.0:0.0	.	341;309	Q86YD1;Q86YD1-2	PTOV1_HUMAN;.	L	309;341	.	ENSP00000221557:R309L	R	+	2	0	PTOV1	55053703	1.000000	0.71417	0.949000	0.38748	0.062000	0.15995	6.680000	0.74518	2.228000	0.72767	0.563000	0.77884	CGG		PASS	0.667	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		7	9	7	9	---	---	---	---
SIGLEC11	114132	broad.mit.edu	37	19	50462099	50462099	+	Silent	SNP	G	G	A	rs150050230		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:50462099G>A	ENST00000447370.2	-	7	1254	c.1164C>T	c.(1162-1164)cgC>cgT	p.R388R	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Silent_p.R388R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	388	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R376R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACAGACCAGGCGCAGGCTTT	0.682																																						uc010ybh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1162-1164)CGC>CGT		sialic acid binding Ig-like lectin 11 isoform 1		G	,	1,4405		0,1,2202	30.0	35.0	33.0		1164,1164	-3.9	0.0	19	dbSNP_134	33	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	SIGLEC11	NM_001135163.1,NM_052884.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	388/603,388/699	50462099	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462099G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1164C>T	19.37:g.50462099G>A						SIGLEC11_uc010ybi.1_Silent_p.R388R	p.R388R	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1255	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	388			Ig-like C2-type 3.|Extracellular (Potential).			Silent	SNP	ENST00000447370.2	37	c.1164C>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068541	0.20067	2.27E-4	2.33E-4	ENSG00000161640	ENST00000426971	.	.	.	3.24	-3.86	0.04230	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30416	-0.9979	4	.	.	.	.	3.9711	0.09454	0.3584:0.3563:0.2853:0.0	.	.	.	.	V	378	.	.	A	-	2	0	SIGLEC11	55153911	0.004000	0.15560	0.000000	0.03702	0.470000	0.32858	0.377000	0.20552	-0.496000	0.06650	0.556000	0.70494	GCC		PASS	0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		18	55	18	55	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50548559	50548559	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:50548559A>T	ENST00000595661.1	+	6	1354	c.859A>T	c.(859-861)Act>Tct	p.T287S	ZNF473_ENST00000270617.3_Missense_Mutation_p.T287S|ZNF473_ENST00000391821.2_Missense_Mutation_p.T287S|ZNF473_ENST00000445728.3_Missense_Mutation_p.T275S|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	287					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T287S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAAACTCACACTGGAGAAAA	0.428																																						uc002prn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(859-861)ACT>TCT		zinc finger protein 473							90.0	93.0	92.0					19																	50548559		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548559A>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.859A>T	19.37:g.50548559A>T	ENSP00000472808:p.Thr287Ser					ZNF473_uc002prm.2_Missense_Mutation_p.T287S|ZNF473_uc010ybo.1_Missense_Mutation_p.T275S	p.T287S	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	1096	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	287					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.859A>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430341	0.25726	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.17528	2.27;2.27;2.27	4.06	-0.63	0.11530	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.913296	0.09129	N	0.844607	T	0.11965	0.0291	L	0.43923	1.385	0.20307	N	0.999916	B	0.21071	0.051	B	0.14023	0.01	T	0.35276	-0.9795	10	0.38643	T	0.18	0.0175	2.2266	0.03986	0.4664:0.3001:0.0882:0.1452	.	287	Q8WTR7	ZN473_HUMAN	S	287;287;275	ENSP00000270617:T287S;ENSP00000375697:T287S;ENSP00000388961:T275S	ENSP00000270617:T287S	T	+	1	0	ZNF473	55240371	0.011000	0.17503	0.010000	0.14722	0.112000	0.19704	0.566000	0.23593	-0.213000	0.10094	-1.523000	0.00931	ACT		PASS	0.428	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		77	90	77	90	---	---	---	---
EMC10	284361	broad.mit.edu	37	19	50984169	50984169	+	Silent	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:50984169C>T	ENST00000334976.6	+	6	659	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	EMC10_ENST00000376918.3_Silent_p.L205L|EMC10_ENST00000598585.1_Silent_p.L205L|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	205						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L205L(2)									CATTGAGCGCCTGGAGATGGA	0.652																																						uc002psl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(613-615)CTG>TTG		hematopoietic signal peptide-containing isoform							52.0	66.0	61.0					19																	50984169		2203	4300	6503	SO:0001819	synonymous_variant	284361					extracellular region|integral to membrane		g.chr19:50984169C>T	BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.613C>T	19.37:g.50984169C>T						C19orf63_uc002psj.2_Silent_p.L205L|C19orf63_uc002psk.2_Silent_p.L205L	p.L205L	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)	6	679	+		all_neural(266;0.057)	205			Extracellular (Potential).		Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Silent	SNP	ENST00000334976.6	37	c.613C>T	CCDS12796.1																																																																																				PASS	0.652	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		28	52	28	52	---	---	---	---
CEACAM18	729767	broad.mit.edu	37	19	51981852	51981852	+	5'Flank	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:51981852G>C	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Missense_Mutation_p.V47L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18									p.V47L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGAGGTGGCTGTGTCTCTGGA	0.637																																						uc002pwv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(139-141)GTG>CTG		carcinoembryonic antigen-related cell adhesion							28.0	33.0	31.0					19																	51981852		1984	4150	6134	SO:0001631	upstream_gene_variant	729767					integral to membrane		g.chr19:51981852G>C			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981852G>C	Exception_encountered						p.V47L	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	139	+		all_neural(266;0.0529)	47					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.139G>C		.	.	.	.	.	.	.	.	.	.	.	5.808	0.333374	0.11013	.	.	ENSG00000213822	ENST00000451626	T	0.06768	3.26	2.41	-4.82	0.03171	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	9	0.31617	T	0.26	.	0.573	0.00699	0.1981:0.2726:0.2455:0.2838	.	47	A8MTB9	CEA18_HUMAN	L	47	ENSP00000402203:V47L	ENSP00000402203:V47L	V	+	1	0	CEACAM18	56673664	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.645000	0.00107	-3.122000	0.00238	-0.773000	0.03387	GTG		PASS	0.637	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			13	18	13	18	---	---	---	---
ZNF350	59348	broad.mit.edu	37	19	52468188	52468188	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:52468188G>A	ENST00000243644.4	-	5	1745	c.1518C>T	c.(1516-1518)gaC>gaT	p.D506D	HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	506					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D506D(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CAAGGTTTCTGTCCTGTGCAA	0.448																																						uc002pyd.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1516-1518)GAC>GAT		zinc finger protein 350							120.0	100.0	107.0					19																	52468188		2203	4300	6503	SO:0001819	synonymous_variant	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468188G>A	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1518C>T	19.37:g.52468188G>A						uc002pyb.2_Intron|uc002pyc.2_Intron	p.D506D	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1746	-		all_neural(266;0.0505)	506					Q96G73|Q9HAQ4	Silent	SNP	ENST00000243644.4	37	c.1518C>T	CCDS12845.1																																																																																				PASS	0.448	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		27	43	27	43	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52619561	52619561	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:52619561C>A	ENST00000600228.1	-	4	1117	c.856G>T	c.(856-858)Gtt>Ttt	p.V286F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	286					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.V286F(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTCTGATGAACTGCAAGGTGG	0.388																																						uc002pym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)GTT>TTT		zinc finger protein 616							66.0	67.0	66.0					19																	52619561		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619561C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.856G>T	19.37:g.52619561C>A	ENSP00000471000:p.Val286Phe					ZNF616_uc002pyn.2_RNA	p.V286F	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1139	-			286			C2H2-type 4.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.856G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650474	0.47362	.	.	ENSG00000204611	ENST00000330123	.	.	.	0.954	-1.09	0.09904	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38719	0.1051	L	0.48935	1.535	0.09310	N	1	B	0.24533	0.105	B	0.27608	0.081	T	0.38200	-0.9672	8	0.51188	T	0.08	.	8.2046	0.31446	0.0:0.6787:0.3213:0.0	.	286	Q08AN1	ZN616_HUMAN	F	286	.	ENSP00000328722:V286F	V	-	1	0	ZNF616	57311373	0.000000	0.05858	0.000000	0.03702	0.388000	0.30384	-7.116000	0.00044	-0.206000	0.10203	0.305000	0.20034	GTT		PASS	0.388	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		48	49	48	49	---	---	---	---
ZNF761	388561	broad.mit.edu	37	19	53959361	53959361	+	RNA	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:53959361A>T	ENST00000454407.1	+	0	2053							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K480*(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CTTTAGTTGGAAGTCATCCCT	0.443																																						uc010eqp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1600-1602)AAG>TAG		zinc finger protein 761							103.0	100.0	101.0					19																	53959361		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959361A>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959361A>T						ZNF761_uc010ydy.1_Nonsense_Mutation_p.K480*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.K480*	p.K534*	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2058	+			534			C2H2-type 12.		Q6ZNB9	Nonsense_Mutation	SNP	ENST00000454407.1	37	c.1600A>T																																																																																					PASS	0.443	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		57	87	57	87	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54406349	54406349	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:54406349G>T	ENST00000263431.3	+	15	1880	c.1598G>T	c.(1597-1599)gGg>gTg	p.G533V	PRKCG_ENST00000542049.1_Missense_Mutation_p.G420V|PRKCG_ENST00000540413.1_Missense_Mutation_p.G533V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	533	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.G533V(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CAGCCCTATGGGAAGTCTGTC	0.547																																						uc002qcq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1597-1599)GGG>GTG		protein kinase C, gamma							354.0	320.0	332.0					19																	54406349		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54406349G>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1598G>T	19.37:g.54406349G>T	ENSP00000263431:p.Gly533Val					PRKCG_uc010yeg.1_Missense_Mutation_p.G533V|PRKCG_uc010yeh.1_Missense_Mutation_p.G420V	p.G533V	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	15	1880	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		533			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1598G>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949057	0.73787	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.28454	1.61;1.61;1.61	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.61248	0.2332	M	0.86420	2.815	0.80722	D	1	D;D;D	0.67145	0.992;0.996;0.994	D;D;D	0.69654	0.94;0.941;0.965	T	0.67546	-0.5643	9	0.87932	D	0	.	17.1095	0.86672	0.0:0.0:1.0:0.0	.	420;533;533	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	V	533;533;420	ENSP00000443493:G533V;ENSP00000263431:G533V;ENSP00000438090:G420V	ENSP00000263431:G533V	G	+	2	0	PRKCG	59098161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.495000	0.81514	2.719000	0.93026	0.655000	0.94253	GGG		PASS	0.547	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		175	178	175	178	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55179209	55179209	+	Silent	SNP	A	A	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:55179209A>C	ENST00000391736.1	+	13	1480	c.1165A>C	c.(1165-1167)Aga>Cga	p.R389R	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000391733.3_Silent_p.R390R|LILRB4_ENST00000270452.2_Silent_p.R389R|LILRB4_ENST00000430952.2_Silent_p.R388R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	389					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.R389R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CACAAAGGACAGACAGGCAGA	0.587																																						uc002qgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1165-1167)AGA>CGA		leukocyte immunoglobulin-like receptor,							82.0	78.0	79.0					19																	55179209		2198	4300	6498	SO:0001819	synonymous_variant	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179209A>C	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1165A>C	19.37:g.55179209A>C						LILRB4_uc002qgq.2_Silent_p.R388R|LILRB4_uc002qgr.2_Silent_p.R431R|LILRB4_uc010ert.2_Silent_p.R430R|LILRB4_uc010eru.2_Silent_p.R419R	p.R389R	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	11	1527	+			389			Cytoplasmic (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	c.1165A>C	CCDS12902.1																																																																																				PASS	0.587	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			3	30	3	30	---	---	---	---
KIR3DL2	3812	broad.mit.edu	37	19	55377877	55377877	+	Splice_Site	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:55377877G>C	ENST00000326321.3	+	8	1191	c.1158G>C	c.(1156-1158)caG>caC	p.Q386H	KIR3DL2_ENST00000270442.5_Splice_Site_p.Q369H|RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Splice_Site_p.Q386H	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	386					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Q386H(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGAATAGGCAGGTAGGTCCTC	0.547																																						uc002qhl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1156-1158)CAG>CAC		SubName: Full=KIR3DS1;							137.0	141.0	140.0					19																	55377877		2203	4300	6503	SO:0001630	splice_region_variant	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55377877G>C	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1158+1G>C	19.37:g.55377877G>C						KIR3DL2_uc010esh.2_Missense_Mutation_p.Q369H|KIR3DL2_uc002qho.3_Missense_Mutation_p.Q386H	p.Q386H			P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1221	+			386			Cytoplasmic (Potential).		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1158G>C	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	G	4.126	0.021717	0.08006	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00490	7.12;7.05;7.03	1.05	-0.0465	0.13846	.	.	.	.	.	T	0.00524	0.0017	L	0.46157	1.445	0.09310	N	1	P;P;P	0.43542	0.709;0.736;0.81	B;B;P	0.50136	0.308;0.352;0.632	T	0.50285	-0.8846	9	0.87932	D	0	.	3.4155	0.07375	0.2897:0.0:0.7103:0.0	.	369;386;386	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	H	386;386;369	ENSP00000384528:Q386H;ENSP00000325525:Q386H;ENSP00000270442:Q369H	ENSP00000384528:Q386H	Q	+	3	2	KIR3DL1;KIR3DL2	60069689	0.513000	0.26194	0.007000	0.13788	0.002000	0.02628	2.127000	0.42035	0.045000	0.15804	-0.515000	0.04445	CAG		PASS	0.547	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1		Missense_Mutation	75	56	75	56	---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56090015	56090015	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:56090015C>T	ENST00000325421.4	-	2	1019	c.991G>A	c.(991-993)Gcg>Acg	p.A331T	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	331	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.A331T(1)|p.A331S(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)		TTGCCCGCCGCGGGCAGCGGG	0.751																																						uc002qlh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(991-993)GCG>ACG		zinc finger protein 579							9.0	14.0	12.0					19																	56090015		2106	4095	6201	SO:0001583	missense	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56090015C>T	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.991G>A	19.37:g.56090015C>T	ENSP00000320188:p.Ala331Thr						p.A331T	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	1044	-			331			Gly-rich.			Missense_Mutation	SNP	ENST00000325421.4	37	c.991G>A	CCDS12927.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167200	0.21621	.	.	ENSG00000218891	ENST00000325421	T	0.06768	3.26	3.02	-1.34	0.09143	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.40421	-0.9564	9	0.66056	D	0.02	.	7.4234	0.27085	0.1633:0.279:0.5578:0.0	.	331	Q8NAF0	ZN579_HUMAN	T	331	ENSP00000320188:A331T	ENSP00000320188:A331T	A	-	1	0	ZNF579	60781827	0.000000	0.05858	0.811000	0.32455	0.986000	0.74619	-0.048000	0.11944	0.085000	0.17107	0.561000	0.74099	GCG		PASS	0.751	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		5	30	5	30	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243490	56243490	+	Silent	SNP	G	G	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:56243490G>A	ENST00000332836.2	-	2	1734	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	569						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.F569F(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAATATAAATGAAAACTTCTT	0.343																																						uc002qly.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|breast(1)	7						c.(1705-1707)TTC>TTT		NLR family, pyrin domain containing 9							63.0	63.0	63.0					19																	56243490		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56243490G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1707C>T	19.37:g.56243490G>A							p.F569F	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1735	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	569					B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.1707C>T	CCDS12934.1																																																																																				PASS	0.343	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		12	65	12	65	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56321237	56321237	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:56321237T>A	ENST00000589093.1	-	3	832	c.739A>T	c.(739-741)Agt>Tgt	p.S247C	NLRP11_ENST00000592953.1_Missense_Mutation_p.S148C|NLRP11_ENST00000443188.1_Missense_Mutation_p.S247C|NLRP11_ENST00000589824.2_Missense_Mutation_p.S247C|NLRP11_ENST00000360133.3_Missense_Mutation_p.S247C			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	247	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.S247C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GTGCTGTTACTACACAAAGCA	0.463																																						uc010ygf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(739-741)AGT>TGT		NLR family, pyrin domain containing 11							81.0	80.0	81.0					19																	56321237		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56321237T>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.739A>T	19.37:g.56321237T>A	ENSP00000466285:p.Ser247Cys					NLRP11_uc002qlz.2_Missense_Mutation_p.S148C|NLRP11_uc002qmb.2_Missense_Mutation_p.S148C|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.S247C	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1450	-		Colorectal(82;0.0002)	247			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.739A>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.379850	0.42207	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.76448	-1.02;-0.96	2.48	-1.05	0.10036	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.79930	0.4531	L	0.52573	1.65	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.982	T	0.66500	-0.5908	9	0.59425	D	0.04	.	3.4977	0.07661	0.0:0.2659:0.2048:0.5294	.	247;247	P59045;P59045-2	NAL11_HUMAN;.	C	247	ENSP00000409898:S247C;ENSP00000353251:S247C	ENSP00000353251:S247C	S	-	1	0	NLRP11	61013049	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	-2.705000	0.00821	-0.332000	0.08489	0.496000	0.49642	AGT		PASS	0.463	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		17	64	17	64	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56329297	56329297	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:56329297A>G	ENST00000589093.1	-	2	337	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000443188.1_Missense_Mutation_p.C82R|NLRP11_ENST00000589824.2_Missense_Mutation_p.C82R|NLRP11_ENST00000360133.3_Missense_Mutation_p.C82R			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	82	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.C82R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATCTTCCTACAAAGATCTTCC	0.448																																						uc010ygf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(244-246)TGT>CGT		NLR family, pyrin domain containing 11							113.0	103.0	107.0					19																	56329297		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56329297A>G	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.244T>C	19.37:g.56329297A>G	ENSP00000466285:p.Cys82Arg					NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_RNA	p.C82R	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	955	-		Colorectal(82;0.0002)	82			DAPIN.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.244T>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.374093	0.24857	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.52057	0.68;0.68	2.84	1.82	0.25136	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.43787	0.1263	L	0.43152	1.355	0.09310	N	0.999997	P	0.38788	0.647	P	0.47915	0.561	T	0.28038	-1.0056	9	0.26408	T	0.33	.	4.7161	0.12896	0.8493:0.0:0.1507:0.0	.	82	P59045	NAL11_HUMAN	R	82	ENSP00000409898:C82R;ENSP00000353251:C82R	ENSP00000353251:C82R	C	-	1	0	NLRP11	61021109	0.054000	0.20591	0.033000	0.17914	0.001000	0.01503	0.899000	0.28417	0.505000	0.28104	-0.256000	0.11100	TGT		PASS	0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		27	39	27	39	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56379151	56379151	+	Missense_Mutation	SNP	T	T	A	rs200139882		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:56379151T>A	ENST00000301295.6	+	6	2685	c.2263T>A	c.(2263-2265)Tat>Aat	p.Y755N	NLRP4_ENST00000587891.1_Missense_Mutation_p.Y680N|NLRP4_ENST00000346986.5_Intron	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	755					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.Y755N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGCTGACGTATCTGAATGT	0.498																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2263-2265)TAT>AAT		NLR family, pyrin domain containing 4							200.0	161.0	175.0					19																	56379151		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56379151T>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2263T>A	19.37:g.56379151T>A	ENSP00000301295:p.Tyr755Asn					NLRP4_uc002qmf.2_Missense_Mutation_p.Y680N|NLRP4_uc010etf.2_Intron	p.Y755N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	6	2685	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	755			LRR 4.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2263T>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	5.277	0.236597	0.10023	.	.	ENSG00000160505	ENST00000301295	T	0.12984	2.63	3.06	-6.12	0.02124	.	.	.	.	.	T	0.04363	0.0120	N	0.03608	-0.345	0.09310	N	0.999995	P;B	0.37781	0.608;0.032	B;B	0.39119	0.291;0.042	T	0.26326	-1.0106	9	0.27785	T	0.31	.	2.6016	0.04867	0.1295:0.4961:0.1304:0.244	.	680;755	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	N	755	ENSP00000301295:Y755N	ENSP00000301295:Y755N	Y	+	1	0	NLRP4	61070963	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-4.956000	0.00166	-1.955000	0.01023	0.260000	0.18958	TAT		PASS	0.498	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		36	84	36	84	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56487650	56487650	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:56487650T>A	ENST00000291971.3	+	8	2928	c.2857T>A	c.(2857-2859)Tgt>Agt	p.C953S	NLRP8_ENST00000590542.1_Missense_Mutation_p.C934S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	953					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.C953S(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAACCCTGACTGTACATTACA	0.448																																						uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2857-2859)TGT>AGT		NLR family, pyrin domain containing 8							133.0	130.0	131.0					19																	56487650		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56487650T>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2857T>A	19.37:g.56487650T>A	ENSP00000291971:p.Cys953Ser					NLRP8_uc010etg.2_Missense_Mutation_p.C934S	p.C953S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	8	2928	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	953					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2857T>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438571	0.25900	.	.	ENSG00000179709	ENST00000291971	T	0.50813	0.73	2.94	2.94	0.34122	.	.	.	.	.	T	0.37046	0.0989	N	0.13352	0.335	0.09310	N	1	P;P	0.45986	0.87;0.583	P;B	0.49477	0.612;0.222	T	0.09930	-1.0652	9	0.44086	T	0.13	.	7.6842	0.28530	0.0:0.0:0.0:1.0	.	934;953	Q86W28-2;Q86W28	.;NALP8_HUMAN	S	953	ENSP00000291971:C953S	ENSP00000291971:C953S	C	+	1	0	NLRP8	61179462	0.993000	0.37304	0.009000	0.14445	0.050000	0.14768	4.383000	0.59600	1.597000	0.50072	0.421000	0.28195	TGT		PASS	0.448	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		9	56	9	56	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327553	57327553	+	Missense_Mutation	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:57327553T>A	ENST00000326441.9	-	10	2620	c.2257A>T	c.(2257-2259)Agc>Tgc	p.S753C	PEG3_ENST00000423103.2_Missense_Mutation_p.S753C|PEG3_ENST00000593695.1_Missense_Mutation_p.S627C|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S629C|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	753					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.S753C(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)		GGGTTAGAGCTAATGGTGAAC	0.408																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2257-2259)AGC>TGC		paternally expressed 3 isoform 1							160.0	156.0	157.0					19																	57327553		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.chr19:57327553T>A	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.2257A>T	19.37:g.57327553T>A	ENSP00000326581:p.Ser753Cys					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.S724C|PEG3_uc002qnv.2_Missense_Mutation_p.S753C|PEG3_uc002qnw.2_Missense_Mutation_p.S629C|PEG3_uc002qnx.2_Missense_Mutation_p.S627C|PEG3_uc010etr.2_Missense_Mutation_p.S753C	p.S753C	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2608	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	753					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2257A>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966669	0.34659	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03094	4.05;4.05	4.23	4.23	0.50019	.	0.000000	0.56097	D	0.000034	T	0.16300	0.0392	M	0.84326	2.69	.	.	.	D;D;D	0.89917	0.957;1.0;1.0	P;D;D	0.85130	0.557;0.996;0.997	T	0.08086	-1.0739	9	0.56958	D	0.05	-34.8961	8.0643	0.30651	0.0:0.0:0.2059:0.7941	.	629;753;688	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	C	753	ENSP00000326581:S753C;ENSP00000403051:S753C	ENSP00000326581:S753C	S	-	1	0	ZIM2	62019365	0.113000	0.22115	0.146000	0.22360	0.447000	0.32167	2.809000	0.47971	2.141000	0.66446	0.477000	0.44152	AGC		PASS	0.408	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			88	173	88	173	---	---	---	---
DUXA	503835	broad.mit.edu	37	19	57670559	57670559	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:57670559C>G	ENST00000554048.2	-	3	267	c.268G>C	c.(268-270)Gat>Cat	p.D90H		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D90H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		CCAGGTTGATCTTGCCCCTGG	0.458																																						uc002qoa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(268-270)GAT>CAT		double homeobox A							113.0	105.0	108.0					19																	57670559		2203	4300	6503	SO:0001583	missense	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57670559C>G		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.268G>C	19.37:g.57670559C>G	ENSP00000452398:p.Asp90His						p.D90H	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	3	313	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	90						Missense_Mutation	SNP	ENST00000554048.2	37	c.268G>C	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	C	8.086	0.773383	0.16051	.	.	ENSG00000258873	ENST00000554048	D	0.91996	-2.95	2.41	1.32	0.21799	.	1.964050	0.03163	N	0.169669	D	0.90321	0.6972	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.82287	-0.0532	10	0.48119	T	0.1	-0.1297	6.9085	0.24323	0.0:0.71:0.29:0.0	.	90	A6NLW8	DUXA_HUMAN	H	90	ENSP00000452398:D90H	ENSP00000365415:D90H	D	-	1	0	DUXA	62362371	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.073000	0.11468	0.550000	0.28991	0.462000	0.41574	GAT		PASS	0.458	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		10	127	10	127	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58578313	58578313	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:58578313C>A	ENST00000313434.5	+	5	562	c.461C>A	c.(460-462)aCg>aAg	p.T154K	ZNF135_ENST00000359978.6_Missense_Mutation_p.T166K|ZNF135_ENST00000511556.1_Missense_Mutation_p.T166K|ZNF135_ENST00000506786.1_Missense_Mutation_p.T112K|ZNF135_ENST00000439855.2_Missense_Mutation_p.T154K|ZNF135_ENST00000401053.4_Missense_Mutation_p.T178K	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	154					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T178K(1)|p.T154K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCTGTGAAGACGCCTGTTCTG	0.557																																						uc010yhq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(496-498)ACG>AAG		zinc finger protein 135 isoform 2							76.0	65.0	69.0					19																	58578313		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578313C>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.461C>A	19.37:g.58578313C>A	ENSP00000321406:p.Thr154Lys					ZNF135_uc002qre.2_Missense_Mutation_p.T154K|ZNF135_uc002qrd.1_Missense_Mutation_p.T112K|ZNF135_uc002qrf.2_Missense_Mutation_p.T112K|ZNF135_uc002qrg.2_Missense_Mutation_p.T124K|ZNF135_uc010yhr.1_5'UTR	p.T166K	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	593	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	166					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.497C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.548|7.548	0.662013|0.662013	0.14645|0.14645	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T;T	.|0.06068	.|3.42;3.53;3.46;3.46;3.44;3.35	3.48|3.48	-3.58|-3.58	0.04597|0.04597	.|.	.|.	.|.	.|.	.|.	T|T	0.01189|0.01189	0.0039|0.0039	N|N	0.00504|0.00504	-1.425|-1.425	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.22276	.|0.067;0.067;0.067	.|B;B;B	.|0.15052	.|0.005;0.005;0.012	T|T	0.44757|0.44757	-0.9307|-0.9307	5|9	.|0.05959	.|T	.|0.93	.|.	3.2158|3.2158	0.06699|0.06699	0.4149:0.2279:0.0:0.3572|0.4149:0.2279:0.0:0.3572	.|.	.|166;154;166	.|E9PEV2;P52742;Q8N1I7	.|.;ZN135_HUMAN;.	S|K	172|166;178;166;154;154;166;112	.|ENSP00000441410:T178K;ENSP00000369437:T166K;ENSP00000444828:T154K;ENSP00000321406:T154K;ENSP00000422074:T166K;ENSP00000427691:T112K	.|ENSP00000321406:T154K	R|T	+|+	1|2	0|0	ZNF135|ZNF135	63270125|63270125	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-0.422000|-0.422000	0.07043|0.07043	-0.348000|-0.348000	0.08286|0.08286	-0.321000|-0.321000	0.08615|0.08615	CGC|ACG		PASS	0.557	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		29	24	29	24	---	---	---	---
ZNF274	10782	broad.mit.edu	37	19	58724257	58724257	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:58724257G>T	ENST00000326804.4	+	9	2166	c.1707G>T	c.(1705-1707)agG>agT	p.R569S	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.R537S|ZNF274_ENST00000424679.2_Missense_Mutation_p.R464S	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R537S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGTGTGGGAGGACCTTCAATG	0.522																																						uc002qrq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1708-1710)AGG>AGT		zinc finger protein 274 isoform c							79.0	86.0	84.0					19																	58724257		2107	4249	6356	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58724257G>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1707G>T	19.37:g.58724257G>T	ENSP00000321209:p.Arg569Ser					ZNF274_uc002qrr.1_Missense_Mutation_p.R538S|ZNF274_uc002qrs.1_Missense_Mutation_p.R465S|ZNF274_uc010eum.1_Missense_Mutation_p.R329S	p.R570S	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	10	2169	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	570			C2H2-type 3.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.1710G>T		.	.	.	.	.	.	.	.	.	.	G	16.96	3.265133	0.59431	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.18960	2.18;2.18;2.18	5.27	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001564	T	0.32133	0.0819	.	.	.	0.29422	N	0.860518	D;D;D	0.57571	0.976;0.976;0.98	P;P;P	0.58130	0.675;0.675;0.833	T	0.11542	-1.0583	9	0.87932	D	0	-15.4502	6.9266	0.24418	0.41:0.0:0.59:0.0	.	465;538;570	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	S	569;537;464	ENSP00000321209:R569S;ENSP00000321187:R537S;ENSP00000409872:R464S	ENSP00000321209:R569S	R	+	3	2	ZNF274	63416069	0.035000	0.19736	0.804000	0.32291	0.895000	0.52256	0.510000	0.22723	0.708000	0.31955	0.655000	0.94253	AGG		PASS	0.522	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		31	33	31	33	---	---	---	---
ZNF324B	388569	broad.mit.edu	37	19	58966989	58966989	+	Silent	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:58966989A>G	ENST00000336614.4	+	4	785	c.678A>G	c.(676-678)gcA>gcG	p.A226A	ZNF324B_ENST00000545523.1_Silent_p.A226A|ZNF324B_ENST00000391696.1_Silent_p.A216A	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	226					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.A226A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAATGGGCGCAGCTTGGCAGG	0.647																																						uc002qsv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(676-678)GCA>GCG		zinc finger protein 324B							39.0	35.0	37.0					19																	58966989		2203	4300	6503	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58966989A>G	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.678A>G	19.37:g.58966989A>G						ZNF324B_uc002qsu.1_Silent_p.A216A|ZNF324B_uc010euq.1_Silent_p.A226A	p.A226A	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	785	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	226					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.678A>G	CCDS33138.1																																																																																				PASS	0.647	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		10	26	10	26	---	---	---	---
TRIB3	57761	broad.mit.edu	37	20	368924	368924	+	Silent	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:368924A>T	ENST00000217233.3	+	2	823	c.270A>T	c.(268-270)acA>acT	p.T90T	TRIB3_ENST00000422053.2_Silent_p.T117T	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	90	Interaction with DDIT3/CHOP.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)	p.T90T(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		ACTGCCCTACAGGCACTGAGT	0.662																																					Melanoma(101;421 2374 19538)	uc002wdm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(268-270)ACA>ACT		tribbles 3							30.0	32.0	31.0					20																	368924		2203	4299	6502	SO:0001819	synonymous_variant	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:368924A>T	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.270A>T	20.37:g.368924A>T						TRIB3_uc002wdn.2_Silent_p.T117T	p.T90T	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	2	776	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	90			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Silent	SNP	ENST00000217233.3	37	c.270A>T	CCDS12997.1																																																																																				PASS	0.662	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		30	47	30	47	---	---	---	---
SIRPB2	284759	broad.mit.edu	37	20	1458025	1458025	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:1458025C>A	ENST00000359801.3	-	4	853	c.817G>T	c.(817-819)Gca>Tca	p.A273S	SIRPB2_ENST00000608747.1_5'Flank|SIRPB2_ENST00000444444.2_Missense_Mutation_p.A175S|SIRPB2_ENST00000537284.1_Missense_Mutation_p.A135S	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	0	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A372S(1)|p.A273S(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTGAATTCTGCCTCTTTGGAA	0.512																																						uc002wfg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(817-819)GCA>TCA		signal-regulatory protein beta 2 isoform 1							173.0	154.0	160.0					20																	1458025		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1458025C>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.817G>T	20.37:g.1458025C>A	ENSP00000352849:p.Ala273Ser					SIRPB2_uc002wfh.3_Missense_Mutation_p.A175S|SIRPB2_uc010zpr.1_Missense_Mutation_p.A135S	p.A273S	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN			4	1045	-			273			Extracellular (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.817G>T	CCDS42849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.576|6.576	0.474657|0.474657	0.12521|0.12521	.|.	.|.	ENSG00000196209|ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000537284|ENST00000381630;ENST00000381628	T;T;T|T	0.02197|0.02216	4.73;4.51;4.4|4.39	3.38|3.38	-5.12|-5.12	0.02893|0.02893	.|.	1.279330|.	0.05927|.	U|.	0.634468|.	T|T	0.01287|0.01287	0.0042|0.0042	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.13145|.	0.007;0.004;0.004|.	B;B;B|.	0.10450|.	0.005;0.002;0.002|.	T|T	0.48445|0.48445	-0.9035|-0.9035	10|6	0.09338|.	T|.	0.73|.	-23.4699|-23.4699	4.6755|4.6755	0.12710|0.12710	0.154:0.3165:0.0:0.5295|0.154:0.3165:0.0:0.5295	.|.	135;175;273|.	F5H204;E9PCW6;Q5JXA9|.	.;.;SIRB2_HUMAN|.	S|S	273;175;135|175	ENSP00000352849:A273S;ENSP00000402438:A175S;ENSP00000445632:A135S|ENSP00000371043:R175S	ENSP00000352849:A273S|.	A|R	-|-	1|3	0|2	SIRPB2|SIRPB2	1406025|1406025	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.774000|0.774000	0.43823|0.43823	-2.593000|-2.593000	0.00897|0.00897	-0.999000|-0.999000	0.03442|0.03442	0.491000|0.491000	0.48974|0.48974	GCA|AGG		PASS	0.512	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		56	70	56	70	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163291	4163291	+	Missense_Mutation	SNP	G	G	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:4163291G>C	ENST00000305958.4	+	5	1390	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q	SMOX_ENST00000379460.2_Missense_Mutation_p.E389Q|SMOX_ENST00000339123.6_Missense_Mutation_p.E336Q|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Missense_Mutation_p.E336Q	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	389					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.E336Q(1)|p.E389Q(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTTTGTGTGGGAGGACGAAGC	0.597																																						uc002wkm.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1165-1167)GAG>CAG		spermine oxidase isoform 1	Spermine(DB00127)						118.0	107.0	111.0					20																	4163291		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163291G>C	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1165G>C	20.37:g.4163291G>C	ENSP00000307252:p.Glu389Gln					SMOX_uc002wkk.1_Missense_Mutation_p.E336Q|SMOX_uc002wkl.1_Missense_Mutation_p.E336Q|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.E389Q|SMOX_uc010zqo.1_Missense_Mutation_p.E313Q|SMOX_uc002wko.1_Missense_Mutation_p.E389Q	p.E389Q	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN			5	1366	+			389					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.1165G>C	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380546	0.82792	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.5	5.5	0.81552	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	M	0.78344	2.41	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.997;0.999;0.999	D;D;D;D;D	0.80764	0.989;0.994;0.983;0.968;0.962	D	0.95162	0.8282	10	0.42905	T	0.14	-23.4531	16.9541	0.86253	0.0:0.0:1.0:0.0	.	313;389;389;336;336	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	Q	336;389;336;389;246	ENSP00000344595:E336Q;ENSP00000307252:E389Q;ENSP00000278795:E336Q;ENSP00000368773:E389Q;ENSP00000407269:E246Q	ENSP00000278795:E336Q	E	+	1	0	SMOX	4111291	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.863000	0.99569	2.602000	0.87976	0.650000	0.86243	GAG		PASS	0.597	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		18	18	18	18	---	---	---	---
PROKR2	128674	broad.mit.edu	37	20	5294857	5294857	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:5294857C>A	ENST00000217270.3	-	1	158	c.159G>T	c.(157-159)aaG>aaT	p.K53N	PROKR2_ENST00000546004.1_Missense_Mutation_p.K53N	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	53					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.K53N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAATGACGATCTTGGCTGCGA	0.517										HNSCC(71;0.22)																												uc010zqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(157-159)AAG>AAT		prokineticin receptor 2							158.0	131.0	140.0					20																	5294857		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294857C>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.159G>T	20.37:g.5294857C>A	ENSP00000217270:p.Lys53Asn	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.K53N|PROKR2_uc010zqy.1_Missense_Mutation_p.K53N|uc002wly.1_5'Flank	p.K53N	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	159	-			53			Extracellular (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.159G>T	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420865	0.42918	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.37915	1.17;1.17	4.6	3.65	0.41850	.	0.052553	0.85682	D	0.000000	T	0.32912	0.0845	M	0.71581	2.175	0.42496	D	0.99291	P	0.34800	0.469	B	0.29524	0.103	T	0.12167	-1.0558	10	0.31617	T	0.26	.	9.9176	0.41444	0.0:0.896:0.0:0.104	.	53	Q8NFJ6	PKR2_HUMAN	N	53	ENSP00000440790:K53N;ENSP00000217270:K53N	ENSP00000217270:K53N	K	-	3	2	PROKR2	5242857	1.000000	0.71417	0.997000	0.53966	0.780000	0.44128	2.134000	0.42102	1.032000	0.39892	0.655000	0.94253	AAG		PASS	0.517	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		39	54	39	54	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9388677	9388677	+	Silent	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:9388677A>T	ENST00000378493.1	+	18	1740	c.1725A>T	c.(1723-1725)gtA>gtT	p.V575V	PLCB4_ENST00000414679.2_Silent_p.V587V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.V575V|PLCB4_ENST00000378501.2_Silent_p.V575V|PLCB4_ENST00000278655.4_Silent_p.V575V|PLCB4_ENST00000378473.3_Silent_p.V587V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	575	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.V575V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCCAGCCTGTAAAGTTTCAAG	0.403																																						uc002wnf.2																			1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(1723-1725)GTA>GTT		phospholipase C beta 4 isoform b							161.0	156.0	158.0					20																	9388677		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9388677A>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1725A>T	20.37:g.9388677A>T						PLCB4_uc010gbw.1_Silent_p.V575V|PLCB4_uc010gbx.2_Silent_p.V587V|PLCB4_uc002wne.2_Silent_p.V575V|PLCB4_uc002wnh.2_Silent_p.V422V	p.V575V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			20	1861	+			575			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.1725A>T	CCDS13105.1																																																																																				PASS	0.403	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			71	108	71	108	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9538323	9538323	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:9538323G>T	ENST00000378429.3	-	8	2221	c.1675C>A	c.(1675-1677)Ctt>Att	p.L559I	PAK7_ENST00000353224.5_Missense_Mutation_p.L559I|PAK7_ENST00000378423.1_Missense_Mutation_p.L559I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	559	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L559I(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGTTATGAAGGTAGGAGAGA	0.438																																						uc002wnl.2																			1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1675-1677)CTT>ATT		p21-activated kinase 7							142.0	122.0	129.0					20																	9538323		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9538323G>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1675C>A	20.37:g.9538323G>T	ENSP00000367686:p.Leu559Ile					PAK7_uc002wnk.2_Missense_Mutation_p.L559I|PAK7_uc002wnj.2_Missense_Mutation_p.L559I|PAK7_uc010gby.1_Missense_Mutation_p.L559I	p.L559I	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		8	2220	-			559			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1675C>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309171	0.95629	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.72167	-0.63;-0.63;-0.63	5.69	5.69	0.88448	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	0.81541	0.4844	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78924	-0.2012	9	.	.	.	.	19.8171	0.96573	0.0:0.0:1.0:0.0	.	559;559	B0AZM9;Q9P286	.;PAK7_HUMAN	I	559;559;559;507	ENSP00000367686:L559I;ENSP00000322957:L559I;ENSP00000367679:L559I	.	L	-	1	0	PAK7	9486323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.018000	0.88722	2.678000	0.91216	0.643000	0.83706	CTT		PASS	0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			35	29	35	29	---	---	---	---
DEFB118	117285	broad.mit.edu	37	20	29960684	29960684	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:29960684G>T	ENST00000253381.2	+	2	116	c.83G>T	c.(82-84)tGg>tTg	p.W28L		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	28					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.W28L(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAAAAATGCTGGAACAGATCA	0.398																																						uc002wvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(82-84)TGG>TTG		beta-defensin 118 precursor							83.0	80.0	81.0					20																	29960684		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960684G>T	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.83G>T	20.37:g.29960684G>T	ENSP00000253381:p.Trp28Leu						p.W28L	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	109	+	all_hematologic(12;0.158)		28					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.83G>T	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086399	0.36855	.	.	ENSG00000131068	ENST00000253381	T	0.13778	2.56	3.82	-6.18	0.02085	.	1.143330	0.06720	N	0.774684	T	0.08358	0.0208	L	0.38175	1.15	0.09310	N	1	B	0.17465	0.022	B	0.22386	0.039	T	0.41324	-0.9515	10	0.49607	T	0.09	-2.3127	0.6814	0.00875	0.1903:0.2363:0.1787:0.3947	.	28	Q96PH6	DB118_HUMAN	L	28	ENSP00000253381:W28L	ENSP00000253381:W28L	W	+	2	0	DEFB118	29424345	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	-0.519000	0.06260	-1.180000	0.02734	-0.136000	0.14681	TGG		PASS	0.398	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		15	22	15	22	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33329845	33329845	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:33329845C>A	ENST00000374796.2	-	12	6785	c.4215G>T	c.(4213-4215)gtG>gtT	p.V1405V	NCOA6_ENST00000359003.2_Silent_p.V1405V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1405					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.V1405V(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CAACTGCAGCCACAGACACAG	0.498																																						uc002xav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(4213-4215)GTG>GTT		nuclear receptor coactivator 6							76.0	78.0	77.0					20																	33329845		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329845C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4215G>T	20.37:g.33329845C>A						NCOA6_uc002xaw.2_Silent_p.V1405V	p.V1405V	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			12	6786	-			1405					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.4215G>T	CCDS13241.1																																																																																				PASS	0.498	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		36	47	36	47	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41408888	41408888	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:41408888C>A	ENST00000373187.1	-	4	537	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	PTPRT_ENST00000373184.1_Missense_Mutation_p.D180Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.D180Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D180Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.D180Y|PTPRT_ENST00000373198.4_Missense_Mutation_p.D180Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.D180Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	180	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.D180Y(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGGACCTCGTCCACGGCGATG	0.527																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(538-540)GAC>TAC		protein tyrosine phosphatase, receptor type, T							130.0	130.0	130.0					20																	41408888		2076	4218	6294	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41408888C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.538G>T	20.37:g.41408888C>A	ENSP00000362283:p.Asp180Tyr					PTPRT_uc010ggj.2_Missense_Mutation_p.D180Y	p.D180Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN			4	722	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	180			Extracellular (Potential).|MAM.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.538G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313502	0.81358	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.167289	0.49916	D	0.000131	T	0.43678	0.1258	M	0.89534	3.04	0.54753	D	0.999981	D;D	0.89917	0.999;1.0	D;D	0.77004	0.98;0.989	T	0.52335	-0.8589	10	0.87932	D	0	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	180;180	O14522-1;O14522	.;PTPRT_HUMAN	Y	180	ENSP00000362286:D180Y;ENSP00000362283:D180Y;ENSP00000362289:D180Y;ENSP00000348408:D180Y;ENSP00000362294:D180Y;ENSP00000362280:D180Y;ENSP00000362297:D180Y	ENSP00000348408:D180Y	D	-	1	0	PTPRT	40842302	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.443000	0.66581	2.606000	0.88127	0.650000	0.86243	GAC		PASS	0.527	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			24	36	24	36	---	---	---	---
L3MBTL1	26013	broad.mit.edu	37	20	42158983	42158983	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:42158983G>T	ENST00000427442.2	+	10	1209	c.1050G>T	c.(1048-1050)tgG>tgT	p.W350C	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.W282C|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.W282C|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.W282C|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.W350C			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	282					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W350C(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATGACTTCTGGGTCAATGCCA	0.562																																						uc010zwh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)TGG>TGT		l(3)mbt-like isoform I							155.0	137.0	143.0					20																	42158983		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42158983G>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1050G>T	20.37:g.42158983G>T	ENSP00000402107:p.Trp350Cys					L3MBTL_uc002xkl.2_Missense_Mutation_p.W282C|L3MBTL_uc002xkm.2_Missense_Mutation_p.W282C|L3MBTL_uc010ggl.2_Missense_Mutation_p.W282C|L3MBTL_uc002xkn.1_Missense_Mutation_p.W41C|L3MBTL_uc002xko.2_5'Flank	p.W350C	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		10	1096	+		Myeloproliferative disorder(115;0.00452)	282			MBT 1.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1050G>T	CCDS46602.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.668118|4.668118	0.88348|0.88348	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000445228|ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	.|T;T;T;T;T;T	.|0.39592	.|1.07;1.07;1.07;1.07;1.07;1.07	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74921|0.74921	0.3780|0.3780	M|M	0.93550|0.93550	3.43|3.43	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.81309|0.81309	-0.0991|-0.0991	5|10	.|0.87932	.|D	.|0	.|.	18.7731|18.7731	0.91900|0.91900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|350;282;282	.|Q9Y468-5;Q9Y468-2;Q9Y468-1	.|.;.;.	C|C	4|350;350;282;282;282;68	.|ENSP00000402107:W350C;ENSP00000398516:W350C;ENSP00000362227:W282C;ENSP00000403316:W282C;ENSP00000362226:W282C;ENSP00000410139:W68C	.|ENSP00000362226:W282C	G|W	+|+	1|3	0|0	L3MBTL1|L3MBTL1	41592397|41592397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.806000|9.806000	0.99153|0.99153	2.731000|2.731000	0.93534|0.93534	0.556000|0.556000	0.70494|0.70494	GGT|TGG		PASS	0.562	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		42	70	42	70	---	---	---	---
YWHAB	7529	broad.mit.edu	37	20	43530314	43530314	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:43530314C>T	ENST00000372839.3	+	3	414	c.140C>T	c.(139-141)tCt>tTt	p.S47F	YWHAB_ENST00000353703.4_Missense_Mutation_p.S47F|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	47					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.S47F(1)		breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				AATCTGCTCTCTGTTGCCTAC	0.527																																						uc002xmt.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|ovary(1)|breast(1)	4						c.(139-141)TCT>TTT		tyrosine 3-monooxygenase/tryptophan							70.0	65.0	66.0					20																	43530314		2203	4300	6503	SO:0001583	missense	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43530314C>T	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.140C>T	20.37:g.43530314C>T	ENSP00000361930:p.Ser47Phe					YWHAB_uc002xmu.2_Missense_Mutation_p.S47F	p.S47F	NM_003404	NP_003395	P31946	1433B_HUMAN			3	422	+		Myeloproliferative disorder(115;0.0122)	47					A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	c.140C>T	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804472	0.90623	.	.	ENSG00000166913	ENST00000353703;ENST00000372839;ENST00000428262;ENST00000445830	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.65	5.65	0.86999	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85962	0.1471	10	0.87932	D	0	-10.0939	20.1057	0.97893	0.0:1.0:0.0:0.0	.	47	P31946	1433B_HUMAN	F	47	ENSP00000300161:S47F;ENSP00000361930:S47F;ENSP00000394729:S47F;ENSP00000394558:S47F	ENSP00000300161:S47F	S	+	2	0	YWHAB	42963728	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	TCT		PASS	0.527	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		25	36	25	36	---	---	---	---
CD40	958	broad.mit.edu	37	20	44751260	44751260	+	Missense_Mutation	SNP	C	C	T	rs144542285		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:44751260C>T	ENST00000372285.3	+	4	340	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.R90W	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	90					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)	p.R90W(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CCTAGGGCTTCGGGTCCAGCA	0.587									Immune Deficiency with Hyper-IgM																													uc002xrg.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(268-270)CGG>TGG		CD40 antigen isoform 1 precursor	Simvastatin(DB00641)		TRP/ARG,TRP/ARG	0,4406		0,0,2203	95.0	86.0	89.0		268,268	2.9	0.6	20	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CD40	NM_001250.4,NM_152854.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	90/278,90/204	44751260	1,13005	2203	4300	6503	SO:0001583	missense	958	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44751260C>T	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.268C>T	20.37:g.44751260C>T	ENSP00000361359:p.Arg90Trp					CD40_uc002xrf.1_Missense_Mutation_p.R90W|CD40_uc002xrh.1_Missense_Mutation_p.R90W|CD40_uc002xri.1_Missense_Mutation_p.R90W|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	p.R90W	NM_001250	NP_001241	P25942	TNR5_HUMAN			4	345	+		Myeloproliferative disorder(115;0.0122)	90			TNFR-Cys 2.|Extracellular (Potential).		E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.268C>T	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	c	11.81	1.748982	0.30955	0.0	1.16E-4	ENSG00000101017	ENST00000372285;ENST00000372276	T;D	0.81739	-0.82;-1.53	3.89	2.94	0.34122	TNFR/CD27/30/40/95 cysteine-rich region (2);	1.015020	0.07876	N	0.968763	T	0.78104	0.4231	M	0.82193	2.58	0.09310	N	0.999998	B;B;B;B	0.32573	0.079;0.376;0.087;0.109	B;B;B;B	0.14578	0.009;0.011;0.004;0.003	T	0.65059	-0.6260	10	0.37606	T	0.19	-1.2945	7.3194	0.26519	0.0:0.8773:0.0:0.1227	.	73;90;90;90	Q09LL4;P25942-2;P25942;Q6P2H9	.;.;TNR5_HUMAN;.	W	90	ENSP00000361359:R90W;ENSP00000361350:R90W	ENSP00000361350:R90W	R	+	1	2	CD40	44184667	0.000000	0.05858	0.603000	0.28903	0.067000	0.16453	-0.172000	0.09868	0.992000	0.38840	0.447000	0.29281	CGG		PASS	0.587	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		22	31	22	31	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45905058	45905058	+	Splice_Site	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:45905058C>A	ENST00000311275.7	-	11	1673	c.1420G>T	c.(1420-1422)Gct>Tct	p.A474S	ZMYND8_ENST00000540497.1_Splice_Site_p.D469Y|ZMYND8_ENST00000372023.3_Splice_Site_p.A469S|ZMYND8_ENST00000458360.2_Splice_Site_p.A469S|ZMYND8_ENST00000360911.3_Splice_Site_p.A469S|ZMYND8_ENST00000461685.1_Splice_Site_p.A494S|ZMYND8_ENST00000352431.2_Splice_Site_p.A494S|ZMYND8_ENST00000396281.4_Splice_Site_p.A474S|ZMYND8_ENST00000262975.4_Splice_Site_p.A474S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Splice_Site_p.A494S|ZMYND8_ENST00000446994.2_Splice_Site_p.A411S|ZMYND8_ENST00000536340.1_Splice_Site_p.A501S|ZMYND8_ENST00000355972.4_Splice_Site_p.A474S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	474					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.A494S(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGGAGCTGACCTGTGCTCTTA	0.632																																						uc002xta.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(1420-1422)GCT>TCT		zinc finger, MYND-type containing 8 isoform b							38.0	32.0	34.0					20																	45905058		2203	4300	6503	SO:0001630	splice_region_variant	23613						protein binding|zinc ion binding	g.chr20:45905058C>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1420+1G>T	20.37:g.45905058C>A						ZMYND8_uc010ghq.1_Missense_Mutation_p.A151S|ZMYND8_uc010ghr.1_Missense_Mutation_p.A449S|ZMYND8_uc002xst.1_Missense_Mutation_p.D449Y|ZMYND8_uc002xsu.1_Missense_Mutation_p.A474S|ZMYND8_uc002xsv.1_Missense_Mutation_p.D449Y|ZMYND8_uc002xsw.1_Missense_Mutation_p.A226S|ZMYND8_uc002xsx.1_Missense_Mutation_p.A226S|ZMYND8_uc002xsy.1_Missense_Mutation_p.A449S|ZMYND8_uc002xsz.1_Missense_Mutation_p.A411S|ZMYND8_uc010zxy.1_Missense_Mutation_p.A501S|ZMYND8_uc002xtb.1_Missense_Mutation_p.A494S|ZMYND8_uc002xss.2_Missense_Mutation_p.A474S|ZMYND8_uc010zxz.1_Missense_Mutation_p.A469S|ZMYND8_uc002xtc.1_Missense_Mutation_p.A494S|ZMYND8_uc002xtd.1_Missense_Mutation_p.A469S|ZMYND8_uc002xte.1_Missense_Mutation_p.A474S|ZMYND8_uc010zya.1_Missense_Mutation_p.A474S|ZMYND8_uc002xtf.1_Missense_Mutation_p.A494S|ZMYND8_uc002xtg.2_Missense_Mutation_p.A468S|ZMYND8_uc010ghs.1_Missense_Mutation_p.A468S	p.A474S	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1674	-			474					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1420G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.7|21.7|21.7	4.186530|4.186530|4.186530	0.78789|0.78789|0.78789	.|.|.	.|.|.	ENSG00000101040|ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023|ENST00000540497|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D;D|D|.	0.91843|0.87179|.	-2.03;-1.93;-2.0;-1.93;-1.94;-1.92;-2.05;-1.94;-1.93;-2.92;-1.94;-2.04|-2.22|.	5.51|5.51|5.51	5.51|5.51|5.51	0.81932|0.81932|0.81932	.|.|.	0.111980|.|.	0.64402|.|.	D|.|.	0.000008|.|.	T|T|T	0.73048|0.73048|0.73048	0.3537|0.3537|0.3537	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|P;P|.	0.67145|0.46706|.	0.996;0.984;0.987;0.996;0.996;0.987;0.968;0.992;0.996;0.996;0.992;0.987;0.994;0.996;0.996;0.987|0.883;0.833|.	D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D|P;P|.	0.75484|0.62491|.	0.964;0.917;0.95;0.964;0.964;0.932;0.889;0.954;0.94;0.94;0.954;0.95;0.964;0.964;0.986;0.95|0.903;0.815|.	T|T|T	0.69756|0.69756|0.69756	-0.5059|-0.5059|-0.5059	9|8|5	.|.|.	.|.|.	.|.|.	.|.|.	19.451|19.451|19.451	0.94867|0.94867|0.94867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	469;501;469;469;449;468;494;474;469;494;494;474;411;469;494;474|469;469|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q9ULU4-8;B7Z2A8|Q2HXV1;Q2HXV4|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.|.;.|.	S|Y|I	469;474;469;474;494;494;474;501;474;411;494;469|469|400	ENSP00000354166:A469S;ENSP00000312237:A474S;ENSP00000392964:A469S;ENSP00000262975:A474S;ENSP00000420095:A494S;ENSP00000335537:A494S;ENSP00000379577:A474S;ENSP00000439800:A501S;ENSP00000348246:A474S;ENSP00000396725:A411S;ENSP00000418210:A494S;ENSP00000361093:A469S|ENSP00000443086:D469Y|.	.|.|.	A|D|S	-|-|-	1|1|2	0|0|0	ZMYND8|ZMYND8|ZMYND8	45338465|45338465|45338465	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.986000|0.986000|0.986000	0.74619|0.74619|0.74619	5.642000|5.642000|5.642000	0.67888|0.67888|0.67888	2.593000|2.593000|2.593000	0.87608|0.87608|0.87608	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|GAT|AGC		PASS	0.632	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	Missense_Mutation	9	17	9	17	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48522559	48522559	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:48522559C>A	ENST00000422556.1	-	3	1509	c.1160G>T	c.(1159-1161)gGg>gTg	p.G387V	SPATA2_ENST00000289431.5_Missense_Mutation_p.G387V|SPATA2_ENST00000543716.1_Missense_Mutation_p.G250V	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	387					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G387V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCAGGACAGCCCGCAGCTTTG	0.647																																						uc010gie.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1159-1161)GGG>GTG		spermatogenesis associated 2							38.0	35.0	36.0					20																	48522559		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522559C>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.1160G>T	20.37:g.48522559C>A	ENSP00000416799:p.Gly387Val					SPATA2_uc002xuw.2_Missense_Mutation_p.G387V|SPATA2_uc010zyn.1_Missense_Mutation_p.G250V	p.G387V	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1510	-	Hepatocellular(150;0.133)		387					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.1160G>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828368	0.50845	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.55413	0.52;0.52;0.54	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.73871	-0.3846	10	0.66056	D	0.02	-32.2364	17.5732	0.87941	0.0:1.0:0.0:0.0	.	387	Q9UM82	SPAT2_HUMAN	V	387;387;250	ENSP00000289431:G387V;ENSP00000416799:G387V;ENSP00000438855:G250V	ENSP00000289431:G387V	G	-	2	0	SPATA2	47955966	0.999000	0.42202	0.661000	0.29709	0.136000	0.21042	5.361000	0.66092	2.373000	0.80994	0.555000	0.69702	GGG		PASS	0.647	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		14	27	14	27	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52645317	52645317	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:52645317C>A	ENST00000395961.3	-	4	503	c.337G>T	c.(337-339)Gat>Tat	p.D113Y	BCAS1_ENST00000371435.2_Missense_Mutation_p.D113Y|BCAS1_ENST00000411563.1_Missense_Mutation_p.D16Y|BCAS1_ENST00000371440.3_Missense_Mutation_p.D113Y	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	113						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.D113Y(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AGGGATGAATCTGCGGCTTGG	0.537																																						uc002xws.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(337-339)GAT>TAT		breast carcinoma amplified sequence 1							72.0	70.0	70.0					20																	52645317		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645317C>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.337G>T	20.37:g.52645317C>A	ENSP00000379290:p.Asp113Tyr					BCAS1_uc010zzb.1_Missense_Mutation_p.D16Y|BCAS1_uc010gim.2_Missense_Mutation_p.D16Y|BCAS1_uc002xwt.2_Missense_Mutation_p.D113Y|BCAS1_uc010gil.1_Missense_Mutation_p.D113Y|BCAS1_uc010zzc.1_Missense_Mutation_p.D16Y	p.D113Y	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	675	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		113					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.337G>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423059	0.62733	.	.	ENSG00000064787	ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	M	0.66939	2.045	0.49687	D	0.999813	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	0.97110	1.0;1.0;1.0;0.999;0.999;0.999	T	0.00567	-1.1667	10	0.87932	D	0	-16.7338	15.618	0.76784	0.0:1.0:0.0:0.0	.	16;113;113;113;113;113	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	Y	113;113;113;16	ENSP00000360495:D113Y;ENSP00000379290:D113Y;ENSP00000360490:D113Y;ENSP00000397442:D16Y	ENSP00000360490:D113Y	D	-	1	0	BCAS1	52078724	0.987000	0.35691	0.981000	0.43875	0.607000	0.37147	2.757000	0.47557	2.527000	0.85204	0.563000	0.77884	GAT		PASS	0.537	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		21	45	21	45	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027069	55027069	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:55027069C>A	ENST00000360314.3	+	6	1062	c.837C>A	c.(835-837)ttC>ttA	p.F279L	CASS4_ENST00000371336.3_Missense_Mutation_p.F279L|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	279					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.F279L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCTCCACTTTCTACAATCCTC	0.517																																						uc002xxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(835-837)TTC>TTA		HEF-like protein isoform a							63.0	67.0	66.0					20																	55027069		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027069C>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.837C>A	20.37:g.55027069C>A	ENSP00000353462:p.Phe279Leu					CASS4_uc002xxq.3_Missense_Mutation_p.F279L|CASS4_uc002xxr.2_Missense_Mutation_p.F279L|CASS4_uc010zze.1_Missense_Mutation_p.F225L|CASS4_uc010gio.2_Intron	p.F279L	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1062	+			279					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.837C>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	3.797	-0.042469	0.07452	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.11495	2.77;2.77	5.21	0.877	0.19145	.	2.420240	0.01034	N	0.004183	T	0.09642	0.0237	L	0.50919	1.6	0.09310	N	1	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.32402	-0.9908	10	0.11794	T	0.64	-3.1497	1.1181	0.01718	0.2442:0.3758:0.2066:0.1735	.	225;279;279	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	L	279	ENSP00000353462:F279L;ENSP00000360387:F279L	ENSP00000353462:F279L	F	+	3	2	CASS4	54460476	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.066000	0.14489	0.700000	0.31782	0.563000	0.77884	TTC		PASS	0.517	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		21	38	21	38	---	---	---	---
EDN3	1908	broad.mit.edu	37	20	57896191	57896191	+	Missense_Mutation	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:57896191T>C	ENST00000337938.2	+	3	871	c.485T>C	c.(484-486)gTg>gCg	p.V162A	EDN3_ENST00000311585.7_Missense_Mutation_p.V162A|EDN3_ENST00000395654.3_Missense_Mutation_p.V162A|EDN3_ENST00000371028.2_Missense_Mutation_p.V162A|EDN3_ENST00000371025.3_Missense_Mutation_p.V162A	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	162	Endothelin-like.				blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.V162A(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TGCGCTTGTGTGGGGAGATAT	0.557																																						uc002yap.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(484-486)GTG>GCG		endothelin 3 isoform 1 preproprotein							120.0	112.0	115.0					20																	57896191		2203	4300	6503	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57896191T>C	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.485T>C	20.37:g.57896191T>C	ENSP00000337128:p.Val162Ala					EDN3_uc002yao.1_Missense_Mutation_p.V162A|EDN3_uc002yaq.2_Missense_Mutation_p.V162A|EDN3_uc002yar.2_Missense_Mutation_p.V162A|EDN3_uc002yas.2_Missense_Mutation_p.V162A	p.V162A	NM_000114	NP_000105	P14138	EDN3_HUMAN			3	854	+	all_lung(29;0.0115)		162			Endothelin-like.		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.485T>C	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	T	0.951	-0.706454	0.03230	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.95238	-2.25;-2.25;-2.25;-3.5;-3.65	4.75	-8.32	0.00996	Endothelin-like toxin, conserved site (1);Endothelin-like toxin (1);	1.642100	0.03555	N	0.226057	D	0.83119	0.5185	N	0.04090	-0.28	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.75752	-0.3207	10	0.12430	T	0.62	-3.1123	10.3643	0.44015	0.1245:0.6617:0.0:0.2138	.	162;162;162;162	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	A	162	ENSP00000337128:V162A;ENSP00000311854:V162A;ENSP00000360067:V162A;ENSP00000360064:V162A;ENSP00000379015:V162A	ENSP00000311854:V162A	V	+	2	0	EDN3	57329586	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.332000	0.02670	-1.274000	0.02421	-0.421000	0.06004	GTG		PASS	0.557	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		61	72	61	72	---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58571763	58571763	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:58571763G>T	ENST00000244047.5	+	13	2277	c.1966G>T	c.(1966-1968)Ggc>Tgc	p.G656C	CDH26_ENST00000244049.3_Intron|CDH26_ENST00000348616.4_Missense_Mutation_p.G656C|CDH26_ENST00000350849.6_Intron|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26	656					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G656C(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CAATGATGAAGGCCACCAAAC	0.438																																						uc002ybe.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1966-1968)GGC>TGC		cadherin-like 26 isoform a							230.0	207.0	215.0					20																	58571763		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58571763G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1966G>T	20.37:g.58571763G>T	ENSP00000244047:p.Gly656Cys					CDH26_uc002ybf.1_Missense_Mutation_p.G236C|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.G170C|CDH26_uc002ybh.2_Intron|CDH26_uc002ybi.2_Intron	p.G656C	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		13	2266	+	all_lung(29;0.00963)		656			Cytoplasmic (Potential).		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1966G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.508070|2.508070	0.44558|0.44558	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.58940|.	0.3;0.5|.	4.19|4.19	3.23|3.23	0.37069|0.37069	.|.	0.154802|.	0.40385|.	N|.	0.001103|.	T|T	0.55497|0.55497	0.1924|0.1924	M|M	0.74881|0.74881	2.28|2.28	0.19775|0.19775	N|N	0.999959|0.999959	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.996|.	T|T	0.46857|0.46857	-0.9161|-0.9161	10|5	0.72032|.	D|.	0.01|.	.|.	9.1326|9.1326	0.36854|0.36854	0.1071:0.0:0.8929:0.0|0.1071:0.0:0.8929:0.0	.|.	656;656|.	Q8IXH8;Q8IXH8-4|.	CAD26_HUMAN;.|.	C|N	656|247	ENSP00000244047:G656C;ENSP00000339390:G656C|.	ENSP00000244047:G656C|.	G|K	+|+	1|3	0|2	CDH26|CDH26	58005158|58005158	0.143000|0.143000	0.22626|0.22626	0.100000|0.100000	0.21137|0.21137	0.056000|0.056000	0.15407|0.15407	2.160000|2.160000	0.42348|0.42348	0.873000|0.873000	0.35799|0.35799	0.655000|0.655000	0.94253|0.94253	GGC|AAG		PASS	0.438	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		76	82	76	82	---	---	---	---
SON	6651	broad.mit.edu	37	21	34921983	34921983	+	Missense_Mutation	SNP	A	A	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr21:34921983A>G	ENST00000356577.4	+	3	921	c.446A>G	c.(445-447)gAt>gGt	p.D149G	SON_ENST00000300278.4_Missense_Mutation_p.D149G|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.D149G|SON_ENST00000290239.6_Missense_Mutation_p.D149G	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	149					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D149G(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGGAACATAGATTTAGAATCT	0.368																																						uc002yse.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(445-447)GAT>GGT		SON DNA-binding protein isoform F							49.0	54.0	52.0					21																	34921983		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34921983A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.446A>G	21.37:g.34921983A>G	ENSP00000348984:p.Asp149Gly					SON_uc002ysb.1_Missense_Mutation_p.D149G|SON_uc002ysc.2_Missense_Mutation_p.D149G|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.D149G	NM_138927	NP_620305	P18583	SON_HUMAN			3	495	+			149					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.446A>G	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.439772	0.25900	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.30448	2.76;1.53;2.75;1.53	5.65	4.35	0.52113	.	0.249386	0.29080	N	0.013212	T	0.15565	0.0375	N	0.12182	0.205	0.21579	N	0.999636	B;B;B	0.17465	0.013;0.022;0.022	B;B;B	0.19666	0.011;0.026;0.026	T	0.13683	-1.0500	10	0.23302	T	0.38	.	7.6912	0.28569	0.8698:0.0:0.1302:0.0	.	149;149;149	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	G	149	ENSP00000348984:D149G;ENSP00000290239:D149G;ENSP00000300278:D149G;ENSP00000371095:D149G	ENSP00000290239:D149G	D	+	2	0	SON	33843853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.211000	0.42825	2.278000	0.76064	0.533000	0.62120	GAT		PASS	0.368	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		22	10	22	10	---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39671792	39671792	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr21:39671792G>T	ENST00000328656.4	+	4	912	c.609G>T	c.(607-609)agG>agT	p.R203S	KCNJ15_ENST00000398930.1_Missense_Mutation_p.R203S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.R203S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.R203S|KCNJ15_ENST00000398932.1_Missense_Mutation_p.R203S	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	203					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R203S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CCAATATGAGGAAGAGCCTCT	0.537																																						uc002ywv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						c.(607-609)AGG>AGT		potassium inwardly-rectifying channel J15							62.0	63.0	63.0					21																	39671792		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671792G>T	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.609G>T	21.37:g.39671792G>T	ENSP00000331698:p.Arg203Ser					KCNJ15_uc002yww.2_Missense_Mutation_p.R203S|KCNJ15_uc002ywx.2_Missense_Mutation_p.R203S	p.R203S	NM_002243	NP_002234	Q99712	IRK15_HUMAN			4	911	+			203			Cytoplasmic (By similarity).		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.609G>T	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422185	0.62622	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934	D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	5.73	0.668	0.17912	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97949	0.9325	H	0.95260	3.645	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	D	0.94854	0.8016	9	.	.	.	.	2.8271	0.05488	0.2537:0.1118:0.5193:0.1153	.	203	Q99712	IRK15_HUMAN	S	203	ENSP00000331698:R203S;ENSP00000381911:R203S;ENSP00000381905:R203S;ENSP00000414487:R203S;ENSP00000381904:R203S;ENSP00000381907:R203S	.	R	+	3	2	KCNJ15	38593662	1.000000	0.71417	0.967000	0.41034	0.980000	0.70556	1.309000	0.33539	-0.152000	0.11156	0.655000	0.94253	AGG		PASS	0.537	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		20	16	20	16	---	---	---	---
MMP11	4320	broad.mit.edu	37	22	24121573	24121573	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:24121573G>T	ENST00000215743.3	+	2	360	c.308G>T	c.(307-309)gGg>gTg	p.G103V	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	103					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G103V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CTTTCTGGCGGGCGCTGGGAG	0.662																																						uc002zxx.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(307-309)GGG>GTG		matrix metalloproteinase 11 preproprotein							23.0	24.0	24.0					22																	24121573		2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24121573G>T		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.308G>T	22.37:g.24121573G>T	ENSP00000215743:p.Gly103Val					MMP11_uc002zxy.2_Intron|MMP11_uc002zxz.2_5'Flank	p.G103V	NM_005940	NP_005931	P24347	MMP11_HUMAN			2	330	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	103					Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.308G>T	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743875	0.69418	.	.	ENSG00000099953	ENST00000215743	T	0.12569	2.67	4.7	3.69	0.42338	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.051475	0.85682	D	0.000000	T	0.22475	0.0542	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.03077	-1.1075	10	0.16420	T	0.52	.	12.3236	0.54999	0.0819:0.0:0.9181:0.0	.	103	P24347	MMP11_HUMAN	V	103	ENSP00000215743:G103V	ENSP00000215743:G103V	G	+	2	0	MMP11	22451573	1.000000	0.71417	0.467000	0.27180	0.689000	0.40095	6.881000	0.75584	1.363000	0.46019	0.555000	0.69702	GGG		PASS	0.662	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		8	10	8	10	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26231381	26231381	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:26231381C>A	ENST00000407587.2	+	17	3351	c.3182C>A	c.(3181-3183)gCt>gAt	p.A1061D	MYO18B_ENST00000335473.7_Missense_Mutation_p.A1060D|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1060D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1060	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1061D(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						CTGTGTGCTGCTTTCGAGAAG	0.567																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(3178-3180)GCT>GAT		myosin XVIIIB							84.0	89.0	87.0					22																	26231381		1969	4168	6137	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26231381C>A	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.3182C>A	22.37:g.26231381C>A	ENSP00000386096:p.Ala1061Asp					MYO18B_uc003aca.1_Missense_Mutation_p.A941D|MYO18B_uc010guy.1_Missense_Mutation_p.A942D|MYO18B_uc010guz.1_Missense_Mutation_p.A941D|MYO18B_uc011aka.1_Missense_Mutation_p.A214D|MYO18B_uc011akb.1_Missense_Mutation_p.A573D	p.A1060D	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			17	3429	+			1060	A -> T (in Ref. 3; AAL75811).		Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3179C>A		.	.	.	.	.	.	.	.	.	.	C	11.77	1.736726	0.30774	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87650	-2.28;-2.28;-2.28	4.83	3.79	0.43588	Myosin head, motor domain (2);	0.281962	0.34002	N	0.004342	D	0.86772	0.6013	M	0.69358	2.11	0.33471	D	0.58618	P;D;P;D	0.56968	0.903;0.978;0.928;0.973	P;P;B;P	0.53146	0.512;0.719;0.408;0.597	D	0.85340	0.1095	10	0.10902	T	0.67	.	7.9264	0.29876	0.282:0.567:0.151:0.0	.	573;1060;1061;1060	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	D	1060;1060;1061	ENSP00000441229:A1060D;ENSP00000334563:A1060D;ENSP00000386096:A1061D	ENSP00000334563:A1060D	A	+	2	0	MYO18B	24561381	1.000000	0.71417	0.969000	0.41365	0.068000	0.16541	2.770000	0.47662	1.223000	0.43536	0.643000	0.83706	GCT		PASS	0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		25	47	25	47	---	---	---	---
TFIP11	24144	broad.mit.edu	37	22	26906143	26906143	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:26906143C>G	ENST00000407690.1	-	4	379	c.96G>C	c.(94-96)caG>caC	p.Q32H	TFIP11_ENST00000405938.1_Missense_Mutation_p.Q32H|TFIP11_ENST00000407431.1_Missense_Mutation_p.Q32H|TFIP11_ENST00000407148.1_Missense_Mutation_p.Q32H|CTA-445C9.14_ENST00000566814.1_RNA|CTA-445C9.14_ENST00000565764.1_RNA	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	32	Required for interaction with DHX15.				biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)	p.Q32H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TGAACTCATTCTGGAGATCCC	0.562																																						uc003acr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)CAG>CAC		tuftelin interacting protein 11							138.0	121.0	126.0					22																	26906143		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906143C>G	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.96G>C	22.37:g.26906143C>G	ENSP00000384421:p.Gln32His					TFIP11_uc003acs.2_Missense_Mutation_p.Q32H|TFIP11_uc003act.2_Missense_Mutation_p.Q32H	p.Q32H	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			3	470	-			32					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.96G>C	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443770	0.83993	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938;ENST00000455080;ENST00000418876;ENST00000420242;ENST00000440258	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.63	5.63	0.86233	.	0.140365	0.49916	D	0.000125	T	0.50205	0.1602	L	0.38531	1.155	0.46564	D	0.999106	D	0.61080	0.989	P	0.58077	0.832	T	0.36768	-0.9734	10	0.36615	T	0.2	-39.963	16.8655	0.86028	0.0:1.0:0.0:0.0	.	32	Q9UBB9	TFP11_HUMAN	H	32	ENSP00000384421:Q32H;ENSP00000383892:Q32H;ENSP00000385861:Q32H;ENSP00000384297:Q32H	ENSP00000384297:Q32H	Q	-	3	2	TFIP11	25236143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.751000	0.68720	2.652000	0.90054	0.655000	0.94253	CAG		PASS	0.562	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		43	61	43	61	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28195100	28195100	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:28195100G>T	ENST00000302326.4	-	1	2386	c.1432C>A	c.(1432-1434)Cac>Aac	p.H478N		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	478					intramembranous ossification (GO:0001957)			p.H478N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGCCGTTGTGCATGCTGCCG	0.672			T	ETV6	"""AML, meningioma"""																																	uc003adj.2				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(1432-1434)CAC>AAC		meningioma  1							16.0	20.0	19.0					22																	28195100		2109	4222	6331	SO:0001583	missense	4330						binding	g.chr22:28195100G>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1432C>A	22.37:g.28195100G>T	ENSP00000304956:p.His478Asn						p.H478N	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	2387	-			478					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.1432C>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629038	0.46944	.	.	ENSG00000169184	ENST00000302326	T	0.48836	0.8	4.16	4.16	0.48862	.	0.345102	0.24647	N	0.036755	T	0.29458	0.0734	N	0.24115	0.695	0.33648	D	0.60805	B	0.30281	0.275	B	0.25405	0.06	T	0.27739	-1.0065	10	0.06236	T	0.91	-11.759	15.2161	0.73267	0.0:0.0:1.0:0.0	.	478	Q10571	MN1_HUMAN	N	478	ENSP00000304956:H478N	ENSP00000304956:H478N	H	-	1	0	MN1	26525100	1.000000	0.71417	0.991000	0.47740	0.880000	0.50808	3.157000	0.50716	2.163000	0.67991	0.313000	0.20887	CAC		PASS	0.672	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		7	10	7	10	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32293623	32293623	+	Silent	SNP	C	C	T	rs377333936		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:32293623C>T	ENST00000382112.3	+	39	4402	c.4332C>T	c.(4330-4332)agC>agT	p.S1444S	DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000539165.1_Silent_p.S270S|DEPDC5_ENST00000266091.3_Silent_p.S1431S|DEPDC5_ENST00000382111.2_Silent_p.S1453S|DEPDC5_ENST00000400246.1_Silent_p.S1453S|DEPDC5_ENST00000400248.2_Silent_p.S1422S|DEPDC5_ENST00000535622.1_Silent_p.S1353S|DEPDC5_ENST00000400249.2_Silent_p.S1422S	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1453					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.S1422S(1)|p.S1353S(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGAGGGCAGCGAGCACCTGT	0.537																																						uc003als.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(4264-4266)AGC>AGT		DEP domain containing 5 isoform 1		C	,,,	1,3923		0,1,1961	92.0	94.0	94.0		4332,4359,4059,4266	-5.5	0.9	22		94	0,8312		0,0,4156	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,	0,1,6117	TT,TC,CC		0.0,0.0255,0.0082	,,,	1444/1595,1453/1604,1353/1504,1422/1573	32293623	1,12235	1962	4156	6118	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32293623C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4332C>T	22.37:g.32293623C>T						DEPDC5_uc011als.1_Silent_p.S1353S|DEPDC5_uc011alu.1_Silent_p.S1453S|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.S1444S|DEPDC5_uc003alu.2_Silent_p.S871S|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Silent_p.S720S|DEPDC5_uc011alx.1_Silent_p.S270S|DEPDC5_uc010gwk.2_Silent_p.S448S|DEPDC5_uc011aly.1_Silent_p.S270S	p.S1422S	NM_014662	NP_055477	O75140	DEPD5_HUMAN			39	4408	+			1422					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.4266C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	c	9.130	1.011080	0.19277	2.55E-4	0.0	ENSG00000100150	ENST00000433147	.	.	.	5.61	-5.48	0.02592	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5065	0.75745	0.0:0.2013:0.0:0.7987	.	.	.	.	X	829	.	.	R	+	1	2	DEPDC5	30623623	0.000000	0.05858	0.933000	0.37362	0.950000	0.60333	-2.618000	0.00880	-0.849000	0.04158	-1.013000	0.02462	CGA		PASS	0.537	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		30	51	30	51	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	34046429	34046429	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:34046429C>A	ENST00000354992.2	-	4	903	c.332G>T	c.(331-333)aGc>aTc	p.S111I	LARGE_ENST00000397394.2_Missense_Mutation_p.S111I|LARGE_ENST00000437602.2_Missense_Mutation_p.S111I|LARGE_ENST00000337431.2_Missense_Mutation_p.S111I|LARGE_ENST00000402320.1_Missense_Mutation_p.S111I	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	111					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.S111I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AAGGTTCTCGCTGTCTCCAGT	0.662																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(331-333)AGC>ATC		like-glycosyltransferase							81.0	75.0	77.0					22																	34046429		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046429C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.332G>T	22.37:g.34046429C>A	ENSP00000347088:p.Ser111Ile					LARGE_uc003ane.3_Missense_Mutation_p.S111I|LARGE_uc010gwp.2_Missense_Mutation_p.S111I|LARGE_uc011ame.1_Missense_Mutation_p.S43I|LARGE_uc011amf.1_Missense_Mutation_p.S111I	p.S111I	NM_004737	NP_004728	O95461	LARGE_HUMAN			4	911	-		Lung NSC(1;0.219)	111			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.332G>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435066	0.62955	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114	T;T;T;T;T;T;T	0.53206	1.12;1.09;1.12;1.09;0.63;1.38;1.37	5.6	5.6	0.85130	.	0.044035	0.85682	D	0.000000	T	0.36441	0.0967	N	0.19112	0.55	0.80722	D	1	B;B;P	0.37176	0.17;0.376;0.586	B;B;B	0.33690	0.035;0.168;0.082	T	0.23261	-1.0193	10	0.46703	T	0.11	-0.7369	19.6102	0.95602	0.0:1.0:0.0:0.0	.	111;111;111	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	I	111	ENSP00000347088:S111I;ENSP00000336636:S111I;ENSP00000380549:S111I;ENSP00000385223:S111I;ENSP00000388544:S111I;ENSP00000396277:S111I;ENSP00000415546:S111I	ENSP00000336636:S111I	S	-	2	0	LARGE	32376429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.706000	0.54830	2.630000	0.89119	0.563000	0.77884	AGC		PASS	0.662	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		40	57	40	57	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37333900	37333900	+	Nonsense_Mutation	SNP	G	G	T	rs150659075	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:37333900G>T	ENST00000403662.3	+	14	2272	c.2050G>T	c.(2050-2052)Gga>Tga	p.G684*	CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.G631*|CSF2RB_ENST00000262825.5_Nonsense_Mutation_p.G690*|CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.G690*			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	684					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.G684*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCAAGGGTGGGAGGACAGGA	0.652																																						uc003aqa.3																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(2050-2052)GGA>TGA		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						34.0	38.0	37.0					22																	37333900		2203	4300	6503	SO:0001587	stop_gained	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333900G>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2050G>T	22.37:g.37333900G>T	ENSP00000384053:p.Gly684*					CSF2RB_uc003aqc.3_Nonsense_Mutation_p.G690*	p.G684*	NM_000395	NP_000386	P32927	IL3RB_HUMAN			14	2267	+			684			Cytoplasmic (Potential).		Q5JZI1|Q6ICE0	Nonsense_Mutation	SNP	ENST00000403662.3	37	c.2050G>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556174	0.86231	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	.	.	.	4.98	1.68	0.24146	.	1.237470	0.05778	N	0.608075	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	1.0593	4.5343	0.12020	0.1884:0.0:0.6369:0.1747	.	.	.	.	X	684;684;690;690;631	.	ENSP00000262825:G690X	G	+	1	0	CSF2RB	35663846	0.003000	0.15002	0.001000	0.08648	0.014000	0.08584	1.242000	0.32755	0.146000	0.19002	0.455000	0.32223	GGA		PASS	0.652	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		12	2	12	2	---	---	---	---
APOBEC3F	200316	broad.mit.edu	37	22	39448112	39448112	+	Missense_Mutation	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:39448112T>G	ENST00000308521.5	+	6	1114	c.757T>G	c.(757-759)Tgc>Ggc	p.C253G	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	253	CMP/dCMP deaminase zinc-binding 2.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.C253G(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TGCAGAAAGGTGCTTCCTCTC	0.577																																						uc003aww.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)TGC>GGC		apolipoprotein B mRNA editing enzyme, catalytic							108.0	114.0	112.0					22																	39448112		2203	4297	6500	SO:0001583	missense	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39448112T>G	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.757T>G	22.37:g.39448112T>G	ENSP00000309749:p.Cys253Gly						p.C253G	NM_145298	NP_660341	Q9HC16	ABC3G_HUMAN			6	1050	+	Melanoma(58;0.04)		261					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.757T>G	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.466801	0.26335	.	.	ENSG00000128394	ENST00000308521	T	0.69175	-0.38	2.1	-1.37	0.09056	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.80752	0.4683	M	0.88640	2.97	0.21473	N	0.999679	D	0.89917	1.0	D	0.87578	0.998	T	0.68977	-0.5267	9	0.59425	D	0.04	.	7.6798	0.28507	0.0:0.6302:0.0:0.3698	.	253	Q8IUX4	ABC3F_HUMAN	G	253	ENSP00000309749:C253G	ENSP00000309749:C253G	C	+	1	0	APOBEC3F	37778058	0.000000	0.05858	0.013000	0.15412	0.010000	0.07245	-0.833000	0.04396	-0.430000	0.07318	0.329000	0.21502	TGC		PASS	0.577	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		60	19	60	19	---	---	---	---
TEF	7008	broad.mit.edu	37	22	41783378	41783378	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:41783378C>G	ENST00000266304.4	+	2	297	c.181C>G	c.(181-183)Ctg>Gtg	p.L61V	TEF_ENST00000406644.3_Missense_Mutation_p.L31V	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	61					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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L61V(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GAAGGAAAAGCTGGAGGAGGA	0.532																																						uc003azy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)CTG>GTG		thyrotrophic embryonic factor isoform 1							66.0	66.0	66.0					22																	41783378		2203	4300	6503	SO:0001583	missense	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41783378C>G		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.181C>G	22.37:g.41783378C>G	ENSP00000266304:p.Leu61Val					TEF_uc003azx.2_Missense_Mutation_p.L31V|TEF_uc011apa.1_Missense_Mutation_p.L66V	p.L61V	NM_003216	NP_003207	Q10587	TEF_HUMAN			2	267	+			61					B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Missense_Mutation	SNP	ENST00000266304.4	37	c.181C>G	CCDS14014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.115156|3.115156	0.56505|0.56505	.|.	.|.	ENSG00000167074|ENSG00000167074	ENST00000406644;ENST00000433913;ENST00000266304|ENST00000413942	.|.	.|.	.|.	5.56|5.56	4.55|4.55	0.56014|0.56014	.|.	0.148325|.	0.43919|.	D|.	0.000501|.	T|T	0.57932|0.57932	0.2087|0.2087	L|L	0.47190|0.47190	1.495|1.495	0.50632|0.50632	D|D	0.999882|0.999882	D;D;D|.	0.61697|.	0.99;0.99;0.99|.	P;P;P|.	0.53146|.	0.584;0.584;0.719|.	T|T	0.55003|0.55003	-0.8208|-0.8208	9|5	0.54805|.	T|.	0.06|.	-15.9046|-15.9046	10.5587|10.5587	0.45133|0.45133	0.0:0.8529:0.0:0.1471|0.0:0.8529:0.0:0.1471	.|.	66;61;31|.	B4DIH3;Q10587;Q10587-2|.	.;TEF_HUMAN;.|.	V|R	31;31;61|26	.|.	ENSP00000266304:L61V|.	L|S	+|+	1|3	2|2	TEF|TEF	40113324|40113324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.263000|2.263000	0.43293|0.43293	1.358000|1.358000	0.45922|0.45922	-0.251000|-0.251000	0.11542|0.11542	CTG|AGC		PASS	0.532	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		11	29	11	29	---	---	---	---
PARVG	64098	broad.mit.edu	37	22	44592283	44592283	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:44592283T>C	ENST00000444313.3	+	11	1183	c.699T>C	c.(697-699)aaT>aaC	p.N233N	PARVG_ENST00000415224.1_Silent_p.N233N|PARVG_ENST00000422871.1_Silent_p.N233N	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	233	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.N233N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CTGTGCAGAATCTGGACACCC	0.612																																						uc011aqe.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(697-699)AAT>AAC		parvin, gamma							76.0	71.0	73.0					22																	44592283		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44592283T>C	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.699T>C	22.37:g.44592283T>C						PARVG_uc003bep.2_Silent_p.N233N|PARVG_uc011aqf.1_Silent_p.N233N|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	p.N233N	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN			11	1123	+		Ovarian(80;0.024)|all_neural(38;0.0299)	233			CH 2.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.699T>C	CCDS14057.1																																																																																				PASS	0.612	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		18	39	18	39	---	---	---	---
ARSH	347527	broad.mit.edu	37	X	2933302	2933302	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:2933302G>T	ENST00000381130.2	+	4	632	c.632G>T	c.(631-633)tGg>tTg	p.W211L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	211					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.W211L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTCACTTCCTGGTACTCTAGT	0.458																																						uc011mhj.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(631-633)TGG>TTG		arylsulfatase family, member H							184.0	124.0	144.0					X																	2933302		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933302G>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.632G>T	X.37:g.2933302G>T	ENSP00000370522:p.Trp211Leu						p.W211L	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			4	632	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	211						Missense_Mutation	SNP	ENST00000381130.2	37	c.632G>T	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697189	0.30142	.	.	ENSG00000205667	ENST00000381130	D	0.92965	-3.14	4.03	4.03	0.46877	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.279480	0.37809	N	0.001926	D	0.94188	0.8135	M	0.72353	2.195	0.49915	D	0.99983	D	0.63880	0.993	D	0.64410	0.925	D	0.92504	0.6011	10	0.10111	T	0.7	.	15.4225	0.75025	0.0:0.0:1.0:0.0	.	211	Q5FYA8	ARSH_HUMAN	L	211	ENSP00000370522:W211L	ENSP00000370522:W211L	W	+	2	0	ARSH	2943302	1.000000	0.71417	0.186000	0.23195	0.124000	0.20399	3.731000	0.55013	1.629000	0.50426	0.556000	0.70494	TGG		PASS	0.458	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		10	4	10	4	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3229352	3229352	+	Missense_Mutation	SNP	T	T	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:3229352T>G	ENST00000217939.6	-	7	7046	c.6892A>C	c.(6892-6894)Acc>Ccc	p.T2298P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2298	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)		p.T2298P(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)				TAGCGCTTGGTGCGTCCACCG	0.562																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6892-6894)ACC>CCC		adlican precursor							146.0	110.0	122.0					X																	3229352		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3229352T>G	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.6892A>C	X.37:g.3229352T>G	ENSP00000217939:p.Thr2298Pro						p.T2298P	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	7049	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2298			Ig-like C2-type 7.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6892A>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310190	0.23821	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.26957	1.7	4.28	-5.59	0.02505	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.618350	0.13255	U	0.401779	T	0.33089	0.0851	L	0.45051	1.395	0.19300	N	0.999978	D	0.56968	0.978	P	0.60886	0.88	T	0.31613	-0.9937	10	0.56958	D	0.05	.	12.7059	0.57060	0.0:0.5365:0.0:0.4635	.	2298	Q9NR99	MXRA5_HUMAN	P	2298	ENSP00000217939:T2298P	ENSP00000217939:T2298P	T	-	1	0	MXRA5	3239352	0.024000	0.19004	0.000000	0.03702	0.048000	0.14542	0.073000	0.14640	-1.605000	0.01593	-0.445000	0.05633	ACC		PASS	0.562	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		25	8	25	8	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5821361	5821361	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:5821361G>T	ENST00000381095.3	-	5	1985	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	NLGN4X_ENST00000275857.6_Missense_Mutation_p.A453D|NLGN4X_ENST00000381092.1_Missense_Mutation_p.A453D|NLGN4X_ENST00000381093.2_Missense_Mutation_p.A473D|NLGN4X_ENST00000538097.1_Missense_Mutation_p.A453D	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	453					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.A453D(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGTGGCCACGGCGGGGGCCAC	0.592																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1357-1359)GCC>GAC		X-linked neuroligin 4 precursor							23.0	25.0	24.0					X																	5821361		2202	4297	6499	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821361G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1358C>A	X.37:g.5821361G>T	ENSP00000370485:p.Ala453Asp					NLGN4X_uc004crp.2_Missense_Mutation_p.A473D|NLGN4X_uc004crq.2_Missense_Mutation_p.A453D|NLGN4X_uc010ndi.2_Missense_Mutation_p.A490D|NLGN4X_uc004crr.2_Missense_Mutation_p.A453D|NLGN4X_uc010ndj.2_Missense_Mutation_p.A453D	p.A453D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1859	-			453			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1358C>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638801	0.67130	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.78104	0.4231	M	0.87269	2.87	0.80722	D	1	D;D;D	0.67145	0.984;0.996;0.975	P;D;D	0.80764	0.885;0.994;0.981	T	0.83247	-0.0055	9	0.87932	D	0	.	14.4947	0.67678	0.0:0.0:1.0:0.0	.	510;453;473	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	D	453;473;453;453;453	ENSP00000370485:A453D;ENSP00000370483:A473D;ENSP00000275857:A453D;ENSP00000370482:A453D;ENSP00000439203:A453D	ENSP00000275857:A453D	A	-	2	0	NLGN4X	5831361	1.000000	0.71417	0.934000	0.37439	0.556000	0.35491	8.442000	0.90317	1.579000	0.49836	0.600000	0.82982	GCC		PASS	0.592	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		16	4	16	4	---	---	---	---
SH3KBP1	30011	broad.mit.edu	37	X	19568202	19568202	+	Splice_Site	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:19568202C>T	ENST00000397821.3	-	14	1675		c.e14-1		SH3KBP1_ENST00000541422.1_Splice_Site|SH3KBP1_ENST00000379698.4_Splice_Site|SH3KBP1_ENST00000379716.1_Splice_Site	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1						apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.?(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCTTCTAAGTCTAAAACAAAA	0.423																																						uc004czm.2																			1	Unknown(1)		lung(1)		0						c.e14-1		SH3-domain kinase binding protein 1 isoform a							89.0	81.0	84.0					X																	19568202		2203	4300	6503	SO:0001630	splice_region_variant	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19568202C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1385-1G>A	X.37:g.19568202C>T						SH3KBP1_uc011mje.1_Splice_Site_p.D201_splice|SH3KBP1_uc011mjf.1_Splice_Site_p.D224_splice|SH3KBP1_uc004czl.2_Splice_Site_p.D425_splice|SH3KBP1_uc010nfm.2_Splice_Site	p.D462_splice	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			14	1701	-								B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Splice_Site	SNP	ENST00000397821.3	37	c.1385_splice	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167160	0.78339	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0381	0.89311	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SH3KBP1	19478123	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.652000	0.67959	2.193000	0.70182	0.600000	0.82982	.		PASS	0.423	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	Intron	23	5	23	5	---	---	---	---
RPS6KA3	6197	broad.mit.edu	37	X	20194426	20194426	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:20194426C>A	ENST00000379565.3	-	13	1251	c.1044G>T	c.(1042-1044)acG>acT	p.T348T	RPS6KA3_ENST00000379548.4_Silent_p.T319T|RPS6KA3_ENST00000540702.1_Silent_p.T320T|RPS6KA3_ENST00000544447.1_Silent_p.T320T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	348	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T348T(2)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	CAGGCCTGCCCGTTGCAGGTT	0.328																																						uc004czu.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						c.(1042-1044)ACG>ACT		ribosomal protein S6 kinase, 90kDa, polypeptide							79.0	76.0	77.0					X																	20194426		2203	4300	6503	SO:0001819	synonymous_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20194426C>A	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1044G>T	X.37:g.20194426C>A						RPS6KA3_uc011mjk.1_Silent_p.T319T|RPS6KA3_uc004czv.2_Silent_p.T336T|RPS6KA3_uc011mjl.1_Silent_p.T320T|RPS6KA3_uc011mjm.1_Silent_p.T320T	p.T348T	NM_004586	NP_004577	P51812	KS6A3_HUMAN			13	1044	-			348			AGC-kinase C-terminal.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	c.1044G>T	CCDS14197.1																																																																																				PASS	0.328	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		10	8	10	8	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30237315	30237315	+	Silent	SNP	T	T	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:30237315T>A	ENST00000378988.4	+	2	719	c.618T>A	c.(616-618)ccT>ccA	p.P206P		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	206	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P206P(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TTCTGATGCCTCTCCTGGGTG	0.498																																						uc004dbz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(616-618)CCT>CCA		melanoma antigen family B, 2							64.0	51.0	56.0					X																	30237315		2202	4300	6502	SO:0001819	synonymous_variant	4113						protein binding	g.chrX:30237315T>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.618T>A	X.37:g.30237315T>A							p.P206P	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	721	+			206			MAGE.		O75860	Silent	SNP	ENST00000378988.4	37	c.618T>A	CCDS14219.1																																																																																				PASS	0.498	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		9	3	9	3	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148669	34148669	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:34148669C>T	ENST00000346193.3	-	1	1778	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	576								p.R576Q(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAGGATGCTCGAATCTTGGG	0.512																																						uc004ddg.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(4)|central_nervous_system(1)	5						c.(1726-1728)CGA>CAA		hypothetical protein LOC158724							81.0	76.0	78.0					X																	34148669		2152	4258	6410	SO:0001583	missense	158724							g.chrX:34148669C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1727G>A	X.37:g.34148669C>T	ENSP00000345029:p.Arg576Gln						p.R576Q	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1760	-			576					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1727G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	5.920	0.353746	0.11182	.	.	ENSG00000185448	ENST00000346193	T	0.12255	2.7	1.09	-2.19	0.07015	.	.	.	.	.	T	0.05823	0.0152	N	0.02539	-0.55	0.09310	N	1	D	0.62365	0.991	P	0.53649	0.731	T	0.04840	-1.0923	9	0.13108	T	0.6	.	0.3516	0.00350	0.209:0.249:0.302:0.24	.	576	Q5JRC9	FA47A_HUMAN	Q	576	ENSP00000345029:R576Q	ENSP00000345029:R576Q	R	-	2	0	FAM47A	34058590	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.226000	0.09139	-1.193000	0.02688	-0.729000	0.03580	CGA		PASS	0.512	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		30	8	30	8	---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37670107	37670107	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:37670107C>A	ENST00000378588.4	+	13	1717	c.1650C>A	c.(1648-1650)agC>agA	p.S550R	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Missense_Mutation_p.S283R|CYBB_ENST00000545017.1_Missense_Mutation_p.S518R	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	550					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.S550R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GTAAACAAAGCATCTCCAACT	0.418																																						uc004ddr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1648-1650)AGC>AGA		cytochrome b-245 beta polypeptide							68.0	61.0	64.0					X																	37670107		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37670107C>A	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1650C>A	X.37:g.37670107C>A	ENSP00000367851:p.Ser550Arg					CYBB_uc011mkf.1_Missense_Mutation_p.S518R|CYBB_uc011mkg.1_Missense_Mutation_p.S283R	p.S550R	NM_000397	NP_000388	P04839	CY24B_HUMAN			13	1711	+			550			Cytoplasmic (Potential).		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.1650C>A	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127044	0.77549	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.95377	-3.69;-3.69;-3.69	5.56	5.56	0.83823	Ferric reductase, NAD binding (1);	0.301534	0.46145	D	0.000306	D	0.96169	0.8751	M	0.68952	2.095	0.45239	D	0.99824	P;P	0.43788	0.785;0.817	P;P	0.53450	0.571;0.726	D	0.96222	0.9161	10	0.72032	D	0.01	.	12.0236	0.53358	0.0:0.9188:0.0:0.0812	.	518;550	F5GWD2;P04839	.;CY24B_HUMAN	R	550;518;283	ENSP00000367851:S550R;ENSP00000441896:S518R;ENSP00000441958:S283R	ENSP00000367851:S550R	S	+	3	2	CYBB	37555051	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.432000	0.34936	2.324000	0.78689	0.544000	0.68410	AGC		PASS	0.418	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			27	6	27	6	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38008974	38008974	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:38008974C>A	ENST00000378533.3	-	10	1491	c.1385G>T	c.(1384-1386)tGt>tTt	p.C462F	SRPX_ENST00000432886.2_Missense_Mutation_p.C403F|SRPX_ENST00000544439.1_Missense_Mutation_p.C442F|SRPX_ENST00000343800.6_Missense_Mutation_p.C449F|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	462					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.C462F(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TCAGGTGTTACAGGTCTGGCT	0.453																																						uc004ddy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1384-1386)TGT>TTT		sushi-repeat-containing protein, X-linked							119.0	93.0	102.0					X																	38008974		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38008974C>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1385G>T	X.37:g.38008974C>A	ENSP00000367794:p.Cys462Phe					SRPX_uc004ddz.1_Missense_Mutation_p.C442F|SRPX_uc011mkh.1_Missense_Mutation_p.C403F|SRPX_uc011mki.1_3'UTR	p.C462F	NM_006307	NP_006298	P78539	SRPX_HUMAN			10	1471	-			462					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.1385G>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776667	0.70107	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000378533;ENST00000343800	T;T;T;T	0.60548	0.39;0.38;0.18;0.33	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.996;0.994	T	0.78486	-0.2185	10	0.87932	D	0	-12.9553	19.4463	0.94849	0.0:1.0:0.0:0.0	.	403;442;462	B4DQH5;G3V1L0;P78539	.;.;SRPX_HUMAN	F	442;403;462;449	ENSP00000440758:C442F;ENSP00000411165:C403F;ENSP00000367794:C462F;ENSP00000339211:C449F	ENSP00000339211:C449F	C	-	2	0	SRPX	37893918	1.000000	0.71417	0.990000	0.47175	0.536000	0.34869	7.386000	0.79775	2.546000	0.85860	0.594000	0.82650	TGT		PASS	0.453	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		12	1	12	1	---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64709195	64709195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:64709195G>T	ENST00000338957.4	+	1	581	c.514G>T	c.(514-516)Gag>Tag	p.E172*	ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.E161*	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	172							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.E108*(1)|p.E22*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGCTCCAGAGAGATTGCAAG	0.448																																						uc010nko.2																			2	Substitution - Nonsense(2)		lung(2)	lung(1)|kidney(1)|pancreas(1)	3						c.(481-483)GAG>TAG		zinc finger CCCH-type containing 12B							70.0	67.0	68.0					X																	64709195		1917	4112	6029	SO:0001587	stop_gained	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64709195G>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.514G>T	X.37:g.64709195G>T	ENSP00000340839:p.Glu172*						p.E161*	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			1	490	+			161					B2RTQ3|E9PAJ6|Q5H9C0	Nonsense_Mutation	SNP	ENST00000338957.4	37	c.481G>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	G	38	6.698776	0.97772	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	.	.	.	5.15	5.15	0.70609	.	3.680660	0.00881	N	0.002134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-9.2081	16.1674	0.81777	0.0:0.0:1.0:0.0	.	.	.	.	X	172;161;108	.	ENSP00000218172:E108X	E	+	1	0	ZC3H12B	64625920	1.000000	0.71417	0.172000	0.22920	0.902000	0.53008	7.286000	0.78671	2.388000	0.81334	0.506000	0.49869	GAG		PASS	0.448	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		39	11	39	11	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65423209	65423209	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:65423209C>T	ENST00000343002.2	+	12	2745	c.2081C>T	c.(2080-2082)aCa>aTa	p.T694I	HEPH_ENST00000519389.1_Missense_Mutation_p.T748I|HEPH_ENST00000419594.1_Missense_Mutation_p.T505I|HEPH_ENST00000374727.3_Missense_Mutation_p.T697I|HEPH_ENST00000336279.5_Missense_Mutation_p.T427I|HEPH_ENST00000441993.2_Missense_Mutation_p.T697I			Q9BQS7	HEPH_HUMAN	hephaestin	694	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.T694I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCTCAGGGACATTTGAGATT	0.527																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(2089-2091)ACA>ATA		hephaestin isoform a							46.0	39.0	41.0					X																	65423209		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65423209C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2081C>T	X.37:g.65423209C>T	ENSP00000343939:p.Thr694Ile					HEPH_uc004dwn.2_Missense_Mutation_p.T697I|HEPH_uc004dwo.2_Missense_Mutation_p.T427I|HEPH_uc010nkr.2_Missense_Mutation_p.T505I|HEPH_uc011mpa.1_Missense_Mutation_p.T697I|HEPH_uc010nks.2_5'UTR	p.T697I	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			13	2150	+			694			Plastocyanin-like 4.|Extracellular (Potential).		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2090C>T		.	.	.	.	.	.	.	.	.	.	C	5.201	0.222613	0.09863	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99829	-7.0;-7.0;-7.0;-7.0;-5.55;-7.0;-7.0	4.5	-4.41	0.03590	Cupredoxin (2);	0.602765	0.17643	N	0.166974	D	0.98504	0.9501	L	0.39020	1.185	0.09310	N	1	B;B;B	0.29805	0.001;0.257;0.0	B;B;B	0.22753	0.002;0.041;0.001	D	0.96555	0.9411	10	0.28530	T	0.3	.	11.9396	0.52892	0.0:0.4814:0.0:0.5186	.	748;505;694	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	I	748;697;427;697;505;694;651	ENSP00000430620:T748I;ENSP00000363859:T697I;ENSP00000337418:T427I;ENSP00000411687:T697I;ENSP00000413211:T505I;ENSP00000343939:T694I;ENSP00000398078:T651I	ENSP00000337418:T427I	T	+	2	0	HEPH	65339934	0.000000	0.05858	0.067000	0.19924	0.995000	0.86356	-0.616000	0.05591	-1.772000	0.01292	0.600000	0.82982	ACA		PASS	0.527	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		9	22	9	22	---	---	---	---
ZCCHC5	203430	broad.mit.edu	37	X	77912828	77912828	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:77912828C>A	ENST00000321110.1	-	2	1385	c.1090G>T	c.(1090-1092)Ggt>Tgt	p.G364C		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	364							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G364C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTGGCAAGACCTTCTTGAAAT	0.493																																						uc004edc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1090-1092)GGT>TGT		zinc finger, CCHC domain containing 5							107.0	90.0	96.0					X																	77912828		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912828C>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1090G>T	X.37:g.77912828C>A	ENSP00000316794:p.Gly364Cys						p.G364C	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1386	-			364					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1090G>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	6.734	0.504248	0.12822	.	.	ENSG00000179300	ENST00000321110	T	0.29917	1.55	2.98	-7.31E-4	0.14037	.	0.551937	0.12047	U	0.504477	T	0.37265	0.0997	L	0.49126	1.545	0.09310	N	1	D	0.76494	0.999	P	0.57911	0.829	T	0.19353	-1.0308	10	0.87932	D	0	.	4.6534	0.12606	0.0:0.4635:0.3937:0.1428	.	364	Q8N8U3	ZCHC5_HUMAN	C	364	ENSP00000316794:G364C	ENSP00000316794:G364C	G	-	1	0	ZCCHC5	77799484	0.581000	0.26741	0.004000	0.12327	0.072000	0.16883	0.590000	0.23954	-0.119000	0.11830	0.506000	0.49869	GGT		PASS	0.493	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		26	7	26	7	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91642888	91642888	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:91642888C>T	ENST00000373094.1	+	5	4144	c.3299C>T	c.(3298-3300)cCc>cTc	p.P1100L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1090L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1090L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1100L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1063L|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1063L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1100					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)	p.P1100L(1)		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						CGTGCTACACCCAGCAATCGC	0.517																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3298-3300)CCC>CTC		protocadherin 11 X-linked isoform c							67.0	52.0	57.0					X																	91642888		2201	4295	6496	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91642888C>T	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	ENST00000373094.1:c.3299C>T	X.37:g.91642888C>T	ENSP00000362186:p.Pro1100Leu					PCDH11X_uc004efl.1_Missense_Mutation_p.P1090L|PCDH11X_uc004efo.1_Missense_Mutation_p.P1063L|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Missense_Mutation_p.P1100L|PCDH11X_uc004efn.1_Missense_Mutation_p.P1090L	p.P1100L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			5	4144	+			1100			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3299C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974185	0.34848	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.68765	-0.01;0.13;0.03;0.12;-0.35;0.03	3.56	1.22	0.21188	.	0.115763	0.32204	U	0.006439	T	0.69151	0.3079	L	0.48642	1.525	0.37760	D	0.926275	P;P;P;P;P	0.49696	0.927;0.927;0.927;0.927;0.88	P;P;P;P;P	0.56088	0.791;0.791;0.791;0.791;0.623	T	0.73004	-0.4119	10	0.87932	D	0	.	11.4293	0.50029	0.3393:0.6607:0.0:0.0	.	1063;1090;1100;1090;1100	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	L	1100;1090;1063;1090;1100;1100;1063	ENSP00000362186:P1100L;ENSP00000362189:P1090L;ENSP00000362180:P1063L;ENSP00000355105:P1090L;ENSP00000384758:P1100L;ENSP00000298274:P1063L	ENSP00000298274:P1063L	P	+	2	0	PCDH11X	91529544	1.000000	0.71417	0.099000	0.21106	0.349000	0.29174	4.106000	0.57804	0.334000	0.23590	0.502000	0.49764	CCC		PASS	0.517	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		25	4	25	4	---	---	---	---
TNMD	64102	broad.mit.edu	37	X	99854696	99854696	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:99854696C>A	ENST00000373031.4	+	7	1153	c.936C>A	c.(934-936)cgC>cgA	p.R312R		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	312					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.R312R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GGGTGGCCCGCATGCTGGGGA	0.463																																						uc004efy.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(934-936)CGC>CGA		tenomodulin							65.0	45.0	52.0					X																	99854696		2203	4300	6503	SO:0001819	synonymous_variant	64102					integral to membrane		g.chrX:99854696C>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.936C>A	X.37:g.99854696C>A						TNMD_uc004efz.2_3'UTR	p.R312R	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN			7	1162	+			312			Extracellular (Potential).		Q9HBX0|Q9UJG0	Silent	SNP	ENST00000373031.4	37	c.936C>A	CCDS14469.1																																																																																				PASS	0.463	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		10	2	10	2	---	---	---	---
GLRA4	441509	broad.mit.edu	37	X	102977157	102977157	+	Missense_Mutation	SNP	G	G	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:102977157G>T	ENST00000372617.4	-	6	1061	c.641C>A	c.(640-642)gCt>gAt	p.A214D	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	214						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.A214D(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGCCCCTCAGCCACTTGGAC	0.502																																						uc011mse.1																			2	Substitution - Missense(2)		lung(2)		0						c.(640-642)GCT>GAT		glycine receptor, alpha 4 precursor							126.0	136.0	132.0					X																	102977157		2147	4253	6400	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102977157G>T	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.641C>A	X.37:g.102977157G>T	ENSP00000361700:p.Ala214Asp					GLRA4_uc010nou.2_Missense_Mutation_p.A214D	p.A214D	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			6	1062	-			214			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.641C>A	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634731	0.67130	.	.	ENSG00000188828	ENST00000372617	T	0.79033	-1.23	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	N	0.24115	0.695	0.80722	D	1	B;B	0.22983	0.078;0.005	B;B	0.24006	0.05;0.023	T	0.61907	-0.6966	10	0.25106	T	0.35	.	16.7649	0.85521	0.0:0.0:1.0:0.0	.	214;173	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	D	214	ENSP00000361700:A214D	ENSP00000361700:A214D	A	-	2	0	GLRA4	102863813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.569000	0.86673	0.594000	0.82650	GCT		PASS	0.502	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		90	23	90	23	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105190366	105190366	+	Missense_Mutation	SNP	A	A	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:105190366A>T	ENST00000243300.9	+	26	4566	c.4263A>T	c.(4261-4263)aaA>aaT	p.K1421N	NRK_ENST00000540278.1_5'Flank|NRK_ENST00000428173.2_Missense_Mutation_p.K1422N	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1421	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.K1421N(1)|p.K1422N(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTTCTGAAAAAAGACTAAAGA	0.393										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(4261-4263)AAA>AAT		Nik related kinase							97.0	84.0	88.0					X																	105190366		1858	4091	5949	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105190366A>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4263A>T	X.37:g.105190366A>T	ENSP00000434830:p.Lys1421Asn	HNSCC(51;0.14)				NRK_uc011msi.1_5'Flank	p.K1421N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			26	4566	+			1421			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4263A>T		.	.	.	.	.	.	.	.	.	.	A	17.28	3.349350	0.61183	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77489	-1.09;-1.1	5.98	3.64	0.41730	Citron-like (2);	0.000000	0.53938	D	0.000053	T	0.79575	0.4469	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.78295	-0.2259	10	0.66056	D	0.02	.	6.5199	0.22269	0.6761:0.0:0.3239:0.0	.	1421	Q7Z2Y5	NRK_HUMAN	N	1421;1422	ENSP00000434830:K1421N;ENSP00000438378:K1422N	ENSP00000434830:K1421N	K	+	3	2	NRK	105077022	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.904000	0.39868	0.859000	0.35456	0.486000	0.48141	AAA		PASS	0.393	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		12	28	12	28	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107448925	107448926	+	Splice_Site	DNP	CC	CC	AA			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:107448925_107448926CC>AA	ENST00000372216.4	-	10	713	c.613_613GG>TT	c.(613-615)GGgg>TTggg	p.G205L	COL4A6_ENST00000545689.1_Splice_Site_p.G204L|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000334504.7_Splice_Site_p.G204L|COL4A6_ENST00000538570.1_Splice_Site_p.G204L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	205	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.?(2)|p.G204C(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGGAGGACCCTAGATTTTTT	0.426									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(613-615)GGT>TGT|c.e10-1		type IV alpha 6 collagen isoform A precursor																																				SO:0001630	splice_region_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107448925C>A|g.chrX:107448926C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.613_613delinsAA	X.37:g.107448925_107448926delinsAA						COL4A6_uc004env.3_Missense_Mutation_p.G204C|COL4A6_uc011msn.1_Missense_Mutation_p.G204C|COL4A6_uc010npk.2_Missense_Mutation_p.G204C|COL4A6_uc004env.3_Splice_Site_p.G204_splice|COL4A6_uc011msn.1_Splice_Site_p.G204_splice|COL4A6_uc010npk.2_Splice_Site_p.G204_splice	p.G205C|p.G205_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			10	716	-			205|			Triple-helical region.|		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation|Splice_Site	SNP	ENST00000372216.4	37	c.613G>T|c.613_splice	CCDS14541.1																																																																																				PASS	0.426	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Missense_Mutation	16	7|6	16	6	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619153	108619153	+	Missense_Mutation	SNP	C	C	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:108619153C>T	ENST00000218006.2	-	19	3593	c.3302G>A	c.(3301-3303)aGg>aAg	p.R1101K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1101					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.R1101K(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CACCAACTGCCTTTCTGCTTT	0.502																																						uc004eod.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(3301-3303)AGG>AAG		guanylate cyclase 2F precursor							175.0	139.0	151.0					X																	108619153		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619153C>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3302G>A	X.37:g.108619153C>T	ENSP00000218006:p.Arg1101Lys					GUCY2F_uc011msq.1_RNA	p.R1101K	NM_001522	NP_001513	P51841	GUC2F_HUMAN			19	3578	-			1101			Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.3302G>A	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	2.900	-0.227708	0.06022	.	.	ENSG00000101890	ENST00000218006	T	0.77229	-1.08	4.38	-2.34	0.06704	.	0.718730	0.13461	N	0.386144	T	0.40297	0.1111	N	0.02011	-0.69	0.26590	N	0.973227	B	0.02656	0.0	B	0.01281	0.0	T	0.41052	-0.9530	10	0.05721	T	0.95	.	4.0397	0.09745	0.279:0.2448:0.0:0.4762	.	1101	P51841	GUC2F_HUMAN	K	1101	ENSP00000218006:R1101K	ENSP00000218006:R1101K	R	-	2	0	GUCY2F	108505809	0.995000	0.38212	0.947000	0.38551	0.998000	0.95712	0.419000	0.21247	-0.707000	0.05022	0.600000	0.82982	AGG		PASS	0.502	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		59	21	59	21	---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185755	127185755	+	Missense_Mutation	SNP	G	G	A	rs373832447		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:127185755G>A	ENST00000371124.3	-	1	627	c.431C>T	c.(430-432)gCg>gTg	p.A144V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	144						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A144V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGCATAGAGCGCTGCCACCGC	0.527																																						uc004eum.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(430-432)GCG>GTG		actin-related protein T1		G	VAL/ALA	1,3834		0,1,1631,571	180.0	165.0	170.0		431	2.9	0.0	X		170	0,6728		0,0,2428,1872	no	missense	ACTRT1	NM_138289.3	64	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	144/377	127185755	1,10562	2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185755G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.431C>T	X.37:g.127185755G>A	ENSP00000360165:p.Ala144Val						p.A144V	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	628	-			144					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.431C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316589	0.40996	2.61E-4	0.0	ENSG00000123165	ENST00000371124	D	0.97505	-4.41	3.75	2.88	0.33553	.	0.196815	0.33382	N	0.004966	D	0.97920	0.9316	M	0.84585	2.705	0.36901	D	0.890409	D	0.76494	0.999	D	0.67900	0.954	D	0.98888	1.0772	10	0.87932	D	0	.	8.4076	0.32625	0.1222:0.0:0.8778:0.0	.	144	Q8TDG2	ACTT1_HUMAN	V	144	ENSP00000360165:A144V	ENSP00000360165:A144V	A	-	2	0	ACTRT1	127013436	1.000000	0.71417	0.009000	0.14445	0.070000	0.16714	4.762000	0.62250	0.949000	0.37715	0.538000	0.68166	GCG		PASS	0.527	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		36	75	36	75	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130218252	130218252	+	Missense_Mutation	SNP	C	C	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:130218252C>G	ENST00000276211.5	+	5	964	c.619C>G	c.(619-621)Cag>Gag	p.Q207E	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.Q195E|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.Q71E	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	207					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.Q207E(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCAGACCCTGCAGCTTTCAAA	0.473																																						uc004evz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(619-621)CAG>GAG		hypothetical protein LOC158763 precursor							40.0	40.0	40.0					X																	130218252		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218252C>G		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.619C>G	X.37:g.130218252C>G	ENSP00000276211:p.Gln207Glu					ARHGAP36_uc004ewa.2_Missense_Mutation_p.Q195E|ARHGAP36_uc004ewb.2_Missense_Mutation_p.Q176E|ARHGAP36_uc004ewc.2_Missense_Mutation_p.Q71E	p.Q207E	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			5	964	+			207					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.619C>G	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141578	0.37825	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.11712	2.76;2.75;2.76;2.88	4.99	4.99	0.66335	.	0.135771	0.34156	N	0.004206	T	0.06690	0.0171	N	0.08118	0	0.49915	D	0.999836	P;P;B	0.34639	0.461;0.461;0.332	B;B;B	0.35182	0.197;0.197;0.097	T	0.40664	-0.9551	10	0.48119	T	0.1	.	12.5345	0.56135	0.0:1.0:0.0:0.0	.	176;195;207	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	E	207;195;159;176;71	ENSP00000276211:Q207E;ENSP00000359960:Q195E;ENSP00000408515:Q176E;ENSP00000359959:Q71E	ENSP00000276211:Q207E	Q	+	1	0	ARHGAP36	130045933	1.000000	0.71417	0.999000	0.59377	0.141000	0.21300	6.338000	0.72963	2.451000	0.82905	0.529000	0.55759	CAG		PASS	0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		25	4	25	4	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135432348	135432348	+	Silent	SNP	T	T	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:135432348T>C	ENST00000394143.1	+	6	6774	c.6483T>C	c.(6481-6483)acT>acC	p.T2161T	GPR112_ENST00000412101.1_Silent_p.T1956T|GPR112_ENST00000287534.4_Silent_p.T2098T|GPR112_ENST00000394141.1_Silent_p.T1956T|GPR112_ENST00000370652.1_Silent_p.T2161T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T2161T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAATTCCAACTGCATCATCAC	0.433																																						uc004ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(6481-6483)ACT>ACC		G-protein coupled receptor 112							162.0	136.0	145.0					X																	135432348		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135432348T>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6483T>C	X.37:g.135432348T>C						GPR112_uc010nsb.1_Silent_p.T1956T|GPR112_uc010nsc.1_Silent_p.T1928T	p.T2161T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	6774	+	Acute lymphoblastic leukemia(192;0.000127)		2161			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.6483T>C	CCDS35409.1																																																																																				PASS	0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			41	6	41	6	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138713648	138713648	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:138713648C>A	ENST00000370576.4	-	3	403	c.194G>T	c.(193-195)aGt>aTt	p.S65I	MCF2_ENST00000370573.4_Missense_Mutation_p.S65I|MCF2_ENST00000519895.1_Missense_Mutation_p.S125I|MCF2_ENST00000520602.1_Missense_Mutation_p.S125I|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.S65I|MCF2_ENST00000370578.4_Missense_Mutation_p.S210I|MCF2_ENST00000414978.1_Missense_Mutation_p.S125I	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	65	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S65I(2)|p.S125I(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CAGCAAATCACTAACTGAGCT	0.398																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(193-195)AGT>ATT		MCF.2 cell line derived transforming sequence							145.0	114.0	124.0					X																	138713648		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138713648C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.194G>T	X.37:g.138713648C>A	ENSP00000359608:p.Ser65Ile					MCF2_uc004fav.2_Missense_Mutation_p.S65I|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Missense_Mutation_p.S65I|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Missense_Mutation_p.S210I|MCF2_uc004faw.2_Missense_Mutation_p.S125I|MCF2_uc011mwo.1_Missense_Mutation_p.S125I	p.S65I	NM_005369	NP_005360	P10911	MCF2_HUMAN			3	488	-	Acute lymphoblastic leukemia(192;0.000127)		65			CRAL-TRIO.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.194G>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096421	0.76870	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T	0.61392	1.64;0.11;1.64;1.64;1.64;0.11;0.11	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.090003	0.85682	D	0.000000	T	0.72930	0.3522	M	0.66939	2.045	0.33998	D	0.649913	P;D;P;P;D;P	0.67145	0.899;0.996;0.746;0.899;0.992;0.786	P;D;P;P;D;P	0.72625	0.771;0.978;0.561;0.771;0.963;0.688	T	0.81324	-0.0984	10	0.59425	D	0.04	.	13.3554	0.60625	0.0:0.8461:0.1539:0.0	.	125;210;65;210;65;65	E9PH77;B7Z3Z2;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;MCF2_HUMAN	I	125;65;210;125;125;65;65	ENSP00000427745:S125I;ENSP00000359608:S65I;ENSP00000359610:S210I;ENSP00000397055:S125I;ENSP00000430276:S125I;ENSP00000359605:S65I;ENSP00000342204:S65I	ENSP00000342204:S65I	S	-	2	0	MCF2	138541314	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.880000	0.69698	2.488000	0.83962	0.594000	0.82650	AGT		PASS	0.398	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		41	13	41	13	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140985491	140985491	+	Missense_Mutation	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:140985491C>A	ENST00000298296.1	+	8	1805	c.1805C>A	c.(1804-1806)tCc>tAc	p.S602Y	MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	602	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.S602Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTTTCCATCCTGGTACATG	0.478																																						uc011mwp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1804-1806)TCC>TAC		melanoma antigen family C, 3 isoform 1							91.0	83.0	86.0					X																	140985491		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985491C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1805C>A	X.37:g.140985491C>A	ENSP00000298296:p.Ser602Tyr					MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	p.S602Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			8	1805	+	Acute lymphoblastic leukemia(192;6.56e-05)		602			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1805C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	1.878	-0.458478	0.04508	.	.	ENSG00000165509	ENST00000298296	T	0.03152	4.03	1.25	-0.91	0.10511	.	.	.	.	.	T	0.04952	0.0133	M	0.82716	2.605	0.09310	N	1	B	0.22683	0.073	B	0.27076	0.076	T	0.52230	-0.8603	9	0.02654	T	1	.	4.0022	0.09585	0.0:0.4841:0.0:0.5159	.	602	Q8TD91	MAGC3_HUMAN	Y	602	ENSP00000298296:S602Y	ENSP00000298296:S602Y	S	+	2	0	MAGEC3	140813157	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.629000	0.02029	-0.437000	0.07243	0.284000	0.19432	TCC		PASS	0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		47	6	47	6	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151818973	151818973	+	Silent	SNP	C	C	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:151818973C>A	ENST00000370306.2	+	7	851	c.831C>A	c.(829-831)gtC>gtA	p.V277V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	277					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.V277V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCCTACTGTCCTCACCACTA	0.473																																						uc004ffp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(829-831)GTC>GTA		gamma-aminobutyric acid (GABA) receptor, theta							371.0	302.0	326.0					X																	151818973		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151818973C>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.831C>A	X.37:g.151818973C>A							p.V277V	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			7	851	+	Acute lymphoblastic leukemia(192;6.56e-05)		277			Helical; (Potential).		A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.831C>A	CCDS14707.1																																																																																				PASS	0.473	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		156	20	156	20	---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52828278	52828278	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:52828278delC	ENST00000371586.2	-	3	348	c.210delG	c.(208-210)gggfs	p.G70fs	CC2D1B_ENST00000284376.3_Frame_Shift_Del_p.G70fs|CC2D1B_ENST00000460261.1_5'Flank|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	70						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 negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ACTCACCCTGCCCCTTGGGTG	0.607																																						uc001ctq.1																			0				ovary(2)	2						c.(208-210)GGGfs		coiled-coil and C2 domain containing 1B							213.0	214.0	213.0					1																	52828278		2203	4300	6503	SO:0001589	frameshift_variant	200014							g.chr1:52828278delC	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.210delG	1.37:g.52828278delC	ENSP00000360642:p.Gly70fs					CC2D1B_uc001cts.2_5'Flank	p.G70fs	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			3	348	-			70					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Frame_Shift_Del	DEL	ENST00000371586.2	37	c.210delG	CCDS30714.1																																																																																					0.607	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		65	115	65	115	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179078241	179078242	+	Frame_Shift_Ins	INS	-	-	C			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:179078241_179078242insC	ENST00000502732.1	-	12	2363_2364	c.2160_2161insG	c.(2158-2163)gggagcfs	p.S721fs	ABL2_ENST00000507173.1_Intron|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.S706fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.S700fs|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.S685fs|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000511413.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	721	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGTGCAAAGCTCCCCCCATAGC	0.569			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(2158-2163)GGGAGCfs		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179078241_179078242insC	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2161dupG	1.37:g.179078247_179078247dupC	ENSP00000427562:p.Ser721fs					ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Frame_Shift_Ins_p.G699fs|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Frame_Shift_Ins_p.G705fs|ABL2_uc001gmh.3_Frame_Shift_Ins_p.G684fs|ABL2_uc010pne.1_Intron	p.G720fs	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	2447_2448	-			720_721			F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Frame_Shift_Ins	INS	ENST00000502732.1	37	c.2160_2161insG	CCDS30947.1																																																																																					0.569	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		31	25	31	25	---	---	---	---
KIAA1614	57710	broad.mit.edu	37	1	180886141	180886141	+	Frame_Shift_Del	DEL	G	G	-	rs200280666		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr1:180886141delG	ENST00000367588.4	+	2	957	c.902delG	c.(901-903)cgcfs	p.R301fs		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	301										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GAGAGAAACCGCCTGTTGCTG	0.637																																						uc001gok.2																			0				ovary(3)|skin(1)	4						c.(901-903)CGCfs		hypothetical protein LOC57710							47.0	56.0	53.0					1																	180886141		2035	4197	6232	SO:0001589	frameshift_variant	57710							g.chr1:180886141delG	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.902delG	1.37:g.180886141delG	ENSP00000356560:p.Arg301fs						p.R301fs	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			2	969	+			301					Q5VZ45|Q9HCF8	Frame_Shift_Del	DEL	ENST00000367588.4	37	c.902delG	CCDS41442.1																																																																																					0.637	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		67	33	67	33	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48611122	48611122	+	Splice_Site	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr3:48611122delC	ENST00000328333.8	-	81	6681		c.e81+1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGTCACTCACCGGGGCACCA	0.597																																						uc003ctz.2																			0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11	GRCh37	CS971699|CS993007	COL7A1	S		c.e81+1		alpha 1 type VII collagen precursor							36.0	32.0	33.0					3																	48611122		2202	4300	6502	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48611122delC	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6573+1G>-	3.37:g.48611122delC							p.P2191_splice	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	81	6574	-								Q14054|Q16507	Splice_Site	DEL	ENST00000328333.8	37	c.6573_splice	CCDS2773.1																																																																																					0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Intron	5	13	5	13	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127710431	127710432	+	Frame_Shift_Ins	INS	-	-	G			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr5:127710431_127710432insG	ENST00000508053.1	-	21	2958_2959	c.1984_1985insC	c.(1984-1986)tgcfs	p.C662fs	FBN2_ENST00000508989.1_Frame_Shift_Ins_p.C629fs|FBN2_ENST00000262464.4_Frame_Shift_Ins_p.C662fs|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	662	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGGGTCTGGCATTCATCAACA	0.51																																						uc003kuu.2																			0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1984-1986)TGCfs		fibrillin 2 precursor																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127710431_127710432insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1984_1985insC	5.37:g.127710431_127710432insG	ENSP00000424571:p.Cys662fs					FBN2_uc003kuv.2_Frame_Shift_Ins_p.C629fs	p.C662fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	15	2423_2424	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	662			EGF-like 10; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.1984_1985insC	CCDS34222.1																																																																																					0.510	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		16	27	16	27	---	---	---	---
SLC22A7	10864	broad.mit.edu	37	6	43269340	43269340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr6:43269340delC	ENST00000372585.5	+	7	1066	c.971delC	c.(970-972)gccfs	p.A324fs	SLC22A7_ENST00000372574.3_Frame_Shift_Del_p.A322fs|SLC22A7_ENST00000372589.3_Frame_Shift_Del_p.A322fs|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	324					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AAAGTGGCCGCCGGGGAACGG	0.587																																						uc003out.2																			0					0						c.(970-972)GCCfs		solute carrier family 22 member 7 isoform b							68.0	54.0	59.0					6																	43269340		2203	4300	6503	SO:0001589	frameshift_variant	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43269340delC	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.971delC	6.37:g.43269340delC	ENSP00000361666:p.Ala324fs					SLC22A7_uc010jyl.1_Frame_Shift_Del_p.A325fs|SLC22A7_uc003ous.2_Frame_Shift_Del_p.A322fs	p.A324fs	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		7	1070	+			324					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Frame_Shift_Del	DEL	ENST00000372585.5	37	c.971delC	CCDS4893.2																																																																																					0.587	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			11	11	11	11	---	---	---	---
VPS37D	155382	broad.mit.edu	37	7	73085563	73085564	+	Frame_Shift_Ins	INS	-	-	G	rs532291209|rs369607047	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:73085563_73085564insG	ENST00000324941.4	+	4	747_748	c.613_614insG	c.(613-615)cggfs	p.R205fs	VPS37D_ENST00000451519.1_Frame_Shift_Ins_p.R120fs	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGGGCCGCCCGGGGGCCACCA	0.772																																						uc003tyr.2																			0					0						c.(613-615)CGGfs		vacuolar protein sorting 37D																																				SO:0001589	frameshift_variant	155382				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr7:73085563_73085564insG	AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"""Williams Beuren syndrome chromosome region 24"", ""vacuolar protein sorting 37D (yeast)"""	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.618dupG	7.37:g.73085568_73085568dupG	ENSP00000320416:p.Arg205fs						p.R205fs	NM_001077621	NP_001071089	Q86XT2	VP37D_HUMAN			4	728_729	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	205						Frame_Shift_Ins	INS	ENST00000324941.4	37	c.613_614insG	CCDS43596.1																																																																																					0.772	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		2	10	2	10	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678893	100678894	+	Frame_Shift_Ins	INS	-	-	A			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:100678893_100678894insA	ENST00000306151.4	+	3	4260_4261	c.4196_4197insA	c.(4195-4200)acaagtfs	p.S1400fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1400	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCGTTAACAAGTATACCTG	0.51																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4195-4197)ACAfs		mucin 17 precursor																																				SO:0001589	frameshift_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678893_100678894insA	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4198dupA	7.37:g.100678895_100678895dupA	ENSP00000302716:p.Ser1400fs					MUC17_uc010lho.1_RNA	p.T1399fs	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4249_4250	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1399			Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.		O14761|Q685J2|Q8TDH7	Frame_Shift_Ins	INS	ENST00000306151.4	37	c.4196_4197insA	CCDS34711.1																																																																																					0.510	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		88	127	88	127	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107866747	107866747	+	Frame_Shift_Del	DEL	G	G	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:107866747delG	ENST00000425651.2	-	6	625	c.626delC	c.(625-627)ccafs	p.P209fs	NRCAM_ENST00000379022.4_Frame_Shift_Del_p.P209fs|NRCAM_ENST00000413765.2_Frame_Shift_Del_p.P209fs|NRCAM_ENST00000351718.4_Frame_Shift_Del_p.P203fs|NRCAM_ENST00000379028.3_Frame_Shift_Del_p.P209fs|NRCAM_ENST00000379024.4_Frame_Shift_Del_p.P209fs	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	209	Ig-like 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.P209Q(1)|p.P203Q(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGTGTCCTCTGGGAGGACATT	0.413																																						uc003vfb.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)	5						c.(625-627)CCAfs		neuronal cell adhesion molecule isoform A							119.0	128.0	125.0					7																	107866747		2203	4300	6503	SO:0001589	frameshift_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107866747delG		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.626delC	7.37:g.107866747delG	ENSP00000401244:p.Pro209fs					NRCAM_uc003vfc.2_Frame_Shift_Del_p.P203fs|NRCAM_uc011kmk.1_Frame_Shift_Del_p.P204fs|NRCAM_uc003vfd.2_Frame_Shift_Del_p.P204fs|NRCAM_uc003vfe.2_Frame_Shift_Del_p.P204fs	p.P209fs	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			9	1097	-			209			Ig-like 2.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Frame_Shift_Del	DEL	ENST00000425651.2	37	c.626delC	CCDS47686.1																																																																																					0.413	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		46	88	46	88	---	---	---	---
RNF148	378925	broad.mit.edu	37	7	122342616	122342616	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr7:122342616delC	ENST00000434824.1	-	1	405	c.189delG	c.(187-189)gggfs	p.G63fs	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	63						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GAGAATGATTCCCGAACACTC	0.468																																						uc003vkk.1																			0					0						c.(187-189)GGGfs		ring finger protein 148 precursor							130.0	117.0	121.0					7																	122342616		1955	4156	6111	SO:0001589	frameshift_variant	378925					integral to membrane	zinc ion binding	g.chr7:122342616delC	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.189delG	7.37:g.122342616delC	ENSP00000388207:p.Gly63fs					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron	p.G63fs	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			1	406	-			63					A4D0X4|Q8N308	Frame_Shift_Del	DEL	ENST00000434824.1	37	c.189delG	CCDS47692.1																																																																																					0.468	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		18	20	18	20	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470527	10470527	+	Frame_Shift_Del	DEL	C	C	-	rs202074432	byFrequency	TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:10470527delC	ENST00000382483.3	-	4	1304	c.1081delG	c.(1081-1083)gagfs	p.E361fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	361					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGTCTACCTCCCCCAGAACG	0.692																																						uc003wtc.2																			0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1081-1083)GAGfs		retinitis pigmentosa 1-like 1							43.0	49.0	47.0					8																	10470527		1981	4156	6137	SO:0001589	frameshift_variant	94137				intracellular signal transduction			g.chr8:10470527delC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1081delG	8.37:g.10470527delC	ENSP00000371923:p.Glu361fs						p.E361fs	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1310	-			361					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	c.1081delG	CCDS43708.1																																																																																					0.692	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			26	61	26	61	---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	133015515	133015515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr8:133015515delA	ENST00000254624.5	+	22	2568	c.2343delA	c.(2341-2343)atafs	p.I781fs	EFR3A_ENST00000521940.1_3'UTR|EFR3A_ENST00000519656.1_Frame_Shift_Del_p.I745fs|EFR3A_ENST00000334503.4_Frame_Shift_Del_p.I781fs	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	781						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTGCCCAAATATTGGAACTCA	0.318																																						uc003yte.2																			0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(2341-2343)ATAfs		EFR3 homolog A							94.0	87.0	90.0					8																	133015515		2203	4300	6503	SO:0001589	frameshift_variant	23167					plasma membrane	binding	g.chr8:133015515delA	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.2343delA	8.37:g.133015515delA	ENSP00000254624:p.Ile781fs						p.I781fs	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		22	2544	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		781					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Frame_Shift_Del	DEL	ENST00000254624.5	37	c.2343delA	CCDS34942.2																																																																																					0.318	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		67	58	67	58	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95825687	95825687	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr11:95825687delC	ENST00000524717.1	-	2	2792	c.1508delG	c.(1507-1509)ggcfs	p.G503fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	503					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTGGCCGCTGCCGCCAGCTAC	0.582			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(1507-1509)GGCfs		mastermind-like 2							36.0	40.0	39.0					11																	95825687		1950	4139	6089	SO:0001589	frameshift_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825687delC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1508delG	11.37:g.95825687delC	ENSP00000434552:p.Gly503fs						p.G503fs	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			2	2793	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	503					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Frame_Shift_Del	DEL	ENST00000524717.1	37	c.1508delG	CCDS44714.1																																																																																					0.582	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			20	37	20	37	---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38723962	38723962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:38723962delC	ENST00000342213.2	-	1	1612	c.1266delG	c.(1264-1266)aagfs	p.K422fs		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	422						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAAAGCAGAGCTTGACAAGCC	0.562																																						uc001wum.1																			0				ovary(3)|skin(1)	4						c.(1264-1266)AAGfs		C-type lectin domain family 14, member A							47.0	46.0	47.0					14																	38723962		2203	4300	6503	SO:0001589	frameshift_variant	161198					integral to membrane	sugar binding	g.chr14:38723962delC		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1266delG	14.37:g.38723962delC	ENSP00000353013:p.Lys422fs						p.K422fs	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1613	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		422			Cytoplasmic (Potential).		Q695G9|Q6PWT6|Q8N5V5	Frame_Shift_Del	DEL	ENST00000342213.2	37	c.1266delG	CCDS9667.1																																																																																					0.562	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		29	22	29	22	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2																			1	Deletion - In frame(1)		ovary(1)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(112-117)GAGGCG>GCG		mitogen-activated protein kinase kinase kinase																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_uc001xml.2_In_Frame_Del_p.E38del	p.E38del	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	113_115	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																						0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	2	4	2	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79270147	79270147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:79270147delC	ENST00000554719.1	+	6	1601	c.1110delC	c.(1108-1110)gtcfs	p.V370fs	NRXN3_ENST00000335750.5_Frame_Shift_Del_p.V370fs	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	148					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGGGGCGTGTCAAGCTCATGG	0.522																																						uc001xun.2																			0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1108-1110)GTCfs		neurexin 3 isoform 1 precursor							100.0	85.0	90.0					14																	79270147		2203	4300	6503	SO:0001589	frameshift_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79270147delC	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1110delC	14.37:g.79270147delC	ENSP00000451648:p.Val370fs					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Frame_Shift_Del_p.V504fs	p.V370fs	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	6	1601	+		Renal(4;0.00876)	743			Laminin G-like 4.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Frame_Shift_Del	DEL	ENST00000554719.1	37	c.1110delC	CCDS9870.1																																																																																					0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		32	31	32	31	---	---	---	---
CEP128	145508	broad.mit.edu	37	14	81227834	81227834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr14:81227834delC	ENST00000555265.1	-	17	2875	c.2500delG	c.(2500-2502)gaafs	p.E834fs	CEP128_ENST00000281129.3_Frame_Shift_Del_p.E834fs			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	834						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCATCAATTTCCTTTCCTATC	0.393																																						uc001xux.2																			0					0						c.(2500-2502)GAAfs		hypothetical protein LOC145508							112.0	107.0	109.0					14																	81227834		2203	4300	6503	SO:0001589	frameshift_variant	145508					centriole|spindle pole		g.chr14:81227834delC	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2500delG	14.37:g.81227834delC	ENSP00000451162:p.Glu834fs					C14orf145_uc010asz.1_RNA	p.E834fs	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	16	2671	-			834					B9EK52|Q86X97|Q96ML4	Frame_Shift_Del	DEL	ENST00000555265.1	37	c.2500delG	CCDS32130.1																																																																																					0.393	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		91	43	91	43	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20663141	20663142	+	RNA	INS	-	-	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr15:20663141_20663142insT	ENST00000428453.1	-	0	1159_1160							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCACGGGATGCTCGGGGGGAAA	0.455																																						uc001ytg.2																			0											c.(469-471)GAGfs		RecName: Full=Putative HERC2-like protein 3;																																						0							g.chr15:20663141_20663142insT	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20663142_20663142dupT						uc010tyx.1_RNA|uc001yth.3_Frame_Shift_Ins_p.E157fs|uc010tyy.1_Frame_Shift_Ins_p.E157fs|uc010tyz.1_Frame_Shift_Ins_p.E5fs	p.E157fs							9	1179_1180	-									Frame_Shift_Ins	INS	ENST00000428453.1	37	c.470_471insA																																																																																						0.455	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		2	5	2	5	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1221314	1221314	+	Frame_Shift_Del	DEL	C	C	-	rs121913321|rs373021819		TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:1221314delC	ENST00000326873.7	+	6	2010	c.837delC	c.(835-837)ggcfs	p.G279fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.P281fs*6(2)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGACTGTGGCCCCCCGCTCT	0.607		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		25	Whole gene deletion(20)|Deletion - Frameshift(3)|Unknown(2)	p.0?(19)|p.P281fs*6(2)|p.?(2)|p.Y246fs*3(1)|p.G279F(1)	cervix(14)|lung(6)|large_intestine(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(835-837)GGCfs		serine/threonine protein kinase 11							37.0	41.0	40.0					19																	1221314		1939	4113	6052	SO:0001589	frameshift_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1221314delC	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.837delC	19.37:g.1221314delC	ENSP00000324856:p.Gly279fs	TSP Lung(3;<1E-08)					p.G279fs	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1952	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	279			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.837delC	CCDS45896.1																																																																																					0.607	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		5	5	5	5	---	---	---	---
SBSN	374897	broad.mit.edu	37	19	36017720	36017720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:36017720delC	ENST00000452271.2	-	1	1492	c.1464delG	c.(1462-1464)gggfs	p.G488fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.G145fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	488	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGCTTCCTTCCCAGCCTGGT	0.597																																						uc002oae.1																			0				ovary(1)	1						c.(433-435)GGGfs		suprabasin isoform 2 precursor							110.0	92.0	98.0					19																	36017720		2203	4300	6503	SO:0001589	frameshift_variant	374897					extracellular region		g.chr19:36017720delC	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1464delG	19.37:g.36017720delC	ENSP00000430242:p.Gly488fs					SBSN_uc002oad.1_Frame_Shift_Del_p.G488fs	p.G145fs	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	505	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		145			Ala/Gly/His-rich.		A8K5J0|E9PBV3	Frame_Shift_Del	DEL	ENST00000452271.2	37	c.435delG	CCDS54253.1																																																																																					0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		41	34	41	34	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38886320	38886320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:38886320delG	ENST00000338502.4	+	5	871	c.768delG	c.(766-768)gcgfs	p.A257fs	SPRED3_ENST00000587013.1_Frame_Shift_Del_p.A301fs|SPRED3_ENST00000586301.1_Frame_Shift_Del_p.A257fs|AC005789.11_ENST00000588453.1_lincRNA	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	257	Pro-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTCCCCCAGCGGCACTACCTG	0.786																																						uc002oim.2																			0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(766-768)GCGfs		sprouty-related, EVH1 domain containing 3							2.0	3.0	3.0					19																	38886320		1433	3339	4772	SO:0001589	frameshift_variant	399473				multicellular organismal development			g.chr19:38886320delG		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.768delG	19.37:g.38886320delG	ENSP00000345405:p.Ala257fs						p.A256fs	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	772	+	all_cancers(60;3.4e-06)		256			Pro-rich.		Q2MJR1	Frame_Shift_Del	DEL	ENST00000338502.4	37	c.768delG	CCDS42560.1																																																																																					0.786	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		8	4	8	4	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56424343	56424343	+	Frame_Shift_Del	DEL	G	G	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr19:56424343delG	ENST00000342929.3	-	5	839	c.840delC	c.(838-840)accfs	p.T280fs	NLRP13_ENST00000588751.1_Frame_Shift_Del_p.T280fs	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	280	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTCAGCAAAGGTAGTTTCCT	0.418																																						uc010ygg.1																			0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(838-840)ACCfs		NACHT, leucine rich repeat and PYD containing							68.0	69.0	68.0					19																	56424343		2203	4300	6503	SO:0001589	frameshift_variant	126204						ATP binding	g.chr19:56424343delG	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.840delC	19.37:g.56424343delG	ENSP00000343891:p.Thr280fs						p.T280fs	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	865	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	280			NACHT.		Q7RTR5	Frame_Shift_Del	DEL	ENST00000342929.3	37	c.840delC	CCDS33119.1																																																																																					0.418	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		56	53	56	53	---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13260384	13260385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr20:13260384_13260385insT	ENST00000262487.4	+	3	488_489	c.482_483insT	c.(481-486)tggtggfs	p.WW161fs	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	161						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TGGCGGGCCTGGTGGCAGAGGT	0.599																																						uc010gce.1																			0					0						c.(481-483)TGGfs		isthmin 1 homolog precursor																																				SO:0001589	frameshift_variant	140862					extracellular region		g.chr20:13260384_13260385insT	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		Exception_encountered	20.37:g.13260384_13260385insT	ENSP00000262487:p.Trp161fs					TASP1_uc010zri.1_Intron	p.W161fs	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			3	488_489	+			161					Q8WVH9	Frame_Shift_Ins	INS	ENST00000262487.4	37	c.482_483insT	CCDS46579.1																																																																																					0.599	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			40	27	40	27	---	---	---	---
TTLL1	25809	broad.mit.edu	37	22	43465699	43465699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chr22:43465699delC	ENST00000266254.7	-	4	505	c.265delG	c.(265-267)gagfs	p.E89fs	TTLL1_ENST00000331018.7_Frame_Shift_Del_p.E89fs	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	89	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CCTTCTTTCTCCAGCTCCTTC	0.448																																						uc003bdi.2																			0				skin(1)	1						c.(265-267)GAGfs		tubulin tyrosine ligase-like family, member 1							207.0	206.0	206.0					22																	43465699		2203	4300	6503	SO:0001589	frameshift_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43465699delC	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.265delG	22.37:g.43465699delC	ENSP00000266254:p.Glu89fs					TTLL1_uc010gzh.2_Frame_Shift_Del_p.E89fs|TTLL1_uc003bdj.2_5'UTR|TTLL1_uc003bdh.2_Frame_Shift_Del_p.E51fs	p.E89fs	NM_012263	NP_036395	O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	4	506	-		Ovarian(80;0.0694)	89			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Frame_Shift_Del	DEL	ENST00000266254.7	37	c.265delG	CCDS14043.1																																																																																					0.448	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		40	58	40	58	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140969385	140969385	+	Frame_Shift_Del	DEL	G	G	-			TCGA-37-5819-01A-01D-1632-08	TCGA-37-5819-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	edf2a2c0-3829-4da2-8960-598fbd5c4c07	3f4b2249-68d7-4044-988c-66d89a2ae0e1	g.chrX:140969385delG	ENST00000298296.1	+	4	712	c.712delG	c.(712-714)ggcfs	p.G238fs	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	238	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATTCTTTTTGGCATTTCCCT	0.468																																						uc011mwp.1																			0				skin(2)|central_nervous_system(1)	3						c.(712-714)GGCfs		melanoma antigen family C, 3 isoform 1							153.0	137.0	142.0					X																	140969385		2203	4300	6503	SO:0001589	frameshift_variant	139081							g.chrX:140969385delG	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.712delG	X.37:g.140969385delG	ENSP00000298296:p.Gly238fs						p.G238fs	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			4	712	+	Acute lymphoblastic leukemia(192;6.56e-05)		238			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Frame_Shift_Del	DEL	ENST00000298296.1	37	c.712delG	CCDS14676.1																																																																																					0.468	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		30	87	30	87	---	---	---	---
